Canonical Allele Identifier: CA2622977085
Gene: RB1 HGNC NCBI

Linked Data

gnomAD v4: 13-48303744-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48303744G>T , CM000675.2:g.48303744G>T GRCh38
NC_000013.10:g.48877880G>T , CM000675.1:g.48877880G>T GRCh37
NC_000013.9:g.47775881G>T NCBI36
NG_009009.1:g.4998G>T , LRG_517:g.4998G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000646097.1:c.-169G>T ENSP00000496556.1:n.-169G>T
Search 100 bp 5'
Search 100 bp 3'