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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:
CA800706359
Gene: ADH1B
HGNC
NCBI
Linked Data
dbSNP Id:
rs1553913157
MyVariant Identifiers:
chr4:g.100242814_100242815insCA (hg19)
chr4:g.99321657_99321658insCA (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.99321658_99321659insAC , CM000666.2:g.99321658_99321659insAC
GRCh38
NC_000004.11:g.100242815_100242816insAC , CM000666.1:g.100242815_100242816insAC
GRCh37
NC_000004.10:g.100461838_100461839insAC
NCBI36
NG_011435.1:g.4758_4759insTG
Transcript Alleles
HGVS
Amino-acid Change
ENST00000639454.1:c.19-2772_19-2771insTG
ENSP00000491622.1:n.19-2772_19-2771insTG
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