Canonical Allele Identifier: CA483711030
Gene: RB1-DT HGNC NCBI

Linked Data

gnomAD v4: 13-48303544-A-C
MyVariant Identifiers: chr13:g.48877680A>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48303544A>C , CM000675.2:g.48303544A>C GRCh38
NC_000013.10:g.48877680A>C , CM000675.1:g.48877680A>C GRCh37
NC_000013.9:g.47775681A>C NCBI36
NG_009009.1:g.4798A>C , LRG_517:g.4798A>C

Transcript Alleles

HGVS Amino-acid Change
NR_046414.1:n.118T>G
NR_046414.2:n.159T>G
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