Canonical Allele Identifier: CA483711315
Gene: RB1-DT HGNC NCBI

Linked Data

dbSNP Id: rs2138025587
gnomAD v4: 13-48303596-G-A
MyVariant Identifiers: chr13:g.48877732G>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48303596G>A , CM000675.2:g.48303596G>A GRCh38
NC_000013.10:g.48877732G>A , CM000675.1:g.48877732G>A GRCh37
NC_000013.9:g.47775733G>A NCBI36
NG_009009.1:g.4850G>A , LRG_517:g.4850G>A

Transcript Alleles

HGVS Amino-acid Change
NR_046414.1:n.66C>T
NR_046414.2:n.107C>T
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