Canonical Allele Identifier: CA2622977022
Gene: RB1-DT HGNC NCBI

Linked Data

dbSNP Id: rs1952048255
gnomAD v4: 13-48303689-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48303689A>G , CM000675.2:g.48303689A>G GRCh38
NC_000013.10:g.48877825A>G , CM000675.1:g.48877825A>G GRCh37
NC_000013.9:g.47775826A>G NCBI36
NG_009009.1:g.4943A>G , LRG_517:g.4943A>G

Transcript Alleles

HGVS Amino-acid Change
NR_046414.2:n.14T>C
Search 100 bp 5'
Search 100 bp 3'