Canonical Allele Identifier: CA483711096
Gene: RB1-DT HGNC NCBI

Linked Data

dbSNP Id: rs1952046923
gnomAD v4: 13-48303558-G-A
MyVariant Identifiers: chr13:g.48877694G>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48303558G>A , CM000675.2:g.48303558G>A GRCh38
NC_000013.10:g.48877694G>A , CM000675.1:g.48877694G>A GRCh37
NC_000013.9:g.47775695G>A NCBI36
NG_009009.1:g.4812G>A , LRG_517:g.4812G>A

Transcript Alleles

HGVS Amino-acid Change
NR_046414.1:n.104C>T
NR_046414.2:n.145C>T
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