Allele Registry

WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.

Canonical Allele Identifier: CA483711438

Gene: RB1-DT HGNC NCBI

Linked Data

gnomAD v4: 13-48303627-T-G

MyVariant Identifiers: chr13:g.48877763T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48303627T>G , CM000675.2:g.48303627T>G	GRCh38
NC_000013.10:g.48877763T>G , CM000675.1:g.48877763T>G	GRCh37
NC_000013.9:g.47775764T>G	NCBI36
NG_009009.1:g.4881T>G , LRG_517:g.4881T>G

Transcript Alleles

HGVS	Amino-acid change
NR_046414.1:n.35A>C
NR_046414.2:n.76A>C

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