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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:
CA293589657
Gene: LINC01482
HGNC
NCBI
Linked Data
dbSNP Id:
rs77325336
gnomAD v2:
17-66625794-C-T
gnomAD v3:
17-68629653-C-T
gnomAD v4:
17-68629653-C-T
MyVariant Identifiers:
chr17:g.66625794C>T (hg19)
chr17:g.68629653C>T (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.68629653C>T , CM000679.2:g.68629653C>T
GRCh38
NC_000017.10:g.66625794C>T , CM000679.1:g.66625794C>T
GRCh37
NC_000017.9:g.64137389C>T
NCBI36
Transcript Alleles
HGVS
Amino-acid change
NR_110825.1:n.33+1467C>T
Search 100 bp 5'
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