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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA798766925
Gene: LINC01094
HGNC
NCBI
Linked Data
dbSNP Id:
rs1475644347
gnomAD v2:
4-79589113-CTA-C
gnomAD v3:
4-78667959-CTA-C
gnomAD v4:
4-78667959-CTA-C
MyVariant Identifiers:
chr4:g.79589114_79589115del (hg19)
chr4:g.78667960_78667961del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.78667961_78667962del , CM000666.2:g.78667961_78667962del
GRCh38
NC_000004.11:g.79589115_79589116del , CM000666.1:g.79589115_79589116del
GRCh37
NC_000004.10:g.79808139_79808140del
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
NR_038303.1:n.473+4950_473+4951del
NR_038304.1:n.473+4950_473+4951del
NR_038305.1:n.380-5382_380-5381del
NR_038306.1:n.380-12800_380-12799del
NR_038307.1:n.364+4950_364+4951del
NR_038308.1:n.325+4989_325+4990del
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