Canonical Allele Identifier: PA916016660
Gene: BLM HGNC NCBI

Linked Data

ClinVar Variation Id: 824545
ClinVar RCV Id: RCV001021764
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001274177.1:p.Ser977Phe
CA393851505
NM_001287248.2:c.2930C>T