Canonical Allele Identifier: PA916016434
Gene: BLM HGNC NCBI

Linked Data

ClinVar Variation Id: 5457
ClinVar RCV Id: RCV000005790
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001274177.1:p.Cys661Phe
CA253496
NM_001287248.2:c.1982G>T