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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:
CA552690304
Gene: LINC01094
HGNC
NCBI
Linked Data
dbSNP Id:
rs1361107722
gnomAD v2:
4-79589037-TTC-T
gnomAD v3:
4-78667883-TTC-T
gnomAD v4:
4-78667883-TTC-T
MyVariant Identifiers:
chr4:g.79589038_79589039del (hg19)
chr4:g.78667884_78667885del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.78667884_78667885del , CM000666.2:g.78667884_78667885del
GRCh38
NC_000004.11:g.79589038_79589039del , CM000666.1:g.79589038_79589039del
GRCh37
NC_000004.10:g.79808062_79808063del
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
NR_038303.1:n.473+4873_473+4874del
NR_038304.1:n.473+4873_473+4874del
NR_038305.1:n.380-5459_380-5458del
NR_038306.1:n.380-12877_380-12876del
NR_038307.1:n.364+4873_364+4874del
NR_038308.1:n.325+4912_325+4913del
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