Canonical Allele Identifier: CA2089949384
Gene: RB1-DT HGNC NCBI

Linked Data

dbSNP Id: rs1952047962
gnomAD v4: 13-48303673-C-G
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48303673C>G , CM000675.2:g.48303673C>G GRCh38
NC_000013.10:g.48877809C>G , CM000675.1:g.48877809C>G GRCh37
NC_000013.9:g.47775810C>G NCBI36
NG_009009.1:g.4927C>G , LRG_517:g.4927C>G

Transcript Alleles

HGVS Amino-acid Change
NR_046414.2:n.30G>C
Search 100 bp 5'
Search 100 bp 3'