Canonical Allele Identifier: PA645487905
Gene: BLM HGNC NCBI

Linked Data

ClinVar Variation Id: 405306
ClinVar RCV Id: RCV000472965 RCV002402236
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000048.1:p.Thr547Ile
CA7738567
NM_000057.4:c.1640C>T