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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:
CA101653584
Gene: ADH1B
HGNC
NCBI
Linked Data
dbSNP Id:
rs3076071
gnomAD v2:
4-100242807-A-AC
gnomAD v3:
4-99321650-A-AC
gnomAD v4:
4-99321650-A-AC
MyVariant Identifiers:
chr4:g.100242809_100242810insC (hg19)
chr4:g.100242807_100242808insC (hg19)
chr4:g.99321652_99321653insC (hg38)
chr4:g.99321650_99321651insC (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.99321659dup , CM000666.2:g.99321659dup
GRCh38
NC_000004.11:g.100242816dup , CM000666.1:g.100242816dup
GRCh37
NC_000004.10:g.100461839dup
NCBI36
NG_011435.1:g.4765dup
Transcript Alleles
HGVS
Amino-acid Change
ENST00000639454.1:c.19-2765dup
ENSP00000491622.1:n.19-2765dup
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