Canonical Allele Identifier: CA2089949424
Gene: RB1-DT HGNC NCBI

Linked Data

dbSNP Id: rs1593411637
gnomAD v4: 13-48303686-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48303686G>T , CM000675.2:g.48303686G>T GRCh38
NC_000013.10:g.48877822G>T , CM000675.1:g.48877822G>T GRCh37
NC_000013.9:g.47775823G>T NCBI36
NG_009009.1:g.4940G>T , LRG_517:g.4940G>T

Transcript Alleles

HGVS Amino-acid Change
NR_046414.2:n.17C>A
Search 100 bp 5'
Search 100 bp 3'