Canonical Allele Identifier: CA483711118
Gene: RB1-DT HGNC NCBI

Linked Data

gnomAD v4: 13-48303561-G-T
MyVariant Identifiers: chr13:g.48877697G>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48303561G>T , CM000675.2:g.48303561G>T GRCh38
NC_000013.10:g.48877697G>T , CM000675.1:g.48877697G>T GRCh37
NC_000013.9:g.47775698G>T NCBI36
NG_009009.1:g.4815G>T , LRG_517:g.4815G>T

Transcript Alleles

HGVS Amino-acid Change
NR_046414.1:n.101C>A
NR_046414.2:n.142C>A
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