Canonical Allele Identifier: CA698656229
Gene: RB1-DT HGNC NCBI

Linked Data

ClinVar Variation Id: 2884698
ClinVar RCV Id: RCV003626575
dbSNP Id: rs1176770053
gnomAD v4: 13-48303690-G-C
MyVariant Identifiers: chr13:g.48877826G>C (hg19) chr13:g.48303690G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48303690G>C , CM000675.2:g.48303690G>C GRCh38
NC_000013.10:g.48877826G>C , CM000675.1:g.48877826G>C GRCh37
NC_000013.9:g.47775827G>C NCBI36
NG_009009.1:g.4944G>C , LRG_517:g.4944G>C

Transcript Alleles

HGVS Amino-acid Change
NR_046414.2:n.13C>G
Search 100 bp 5'
Search 100 bp 3'