Canonical Allele Identifier: PA2826738822
Gene: BLM HGNC NCBI

Linked Data

ClinVar Variation Id: 843387
ClinVar RCV Id: RCV001046000 RCV002372792
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001274175.1:p.Ser1302Phe
CA393850518
NM_001287246.2:c.3905C>T