Canonical Allele Identifier: PA2826736596
Gene: BLM HGNC NCBI

Linked Data

ClinVar Variation Id: 405275
ClinVar RCV Id: RCV000460269 RCV001027122
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001274175.1:p.Ser269Gly
CA7738369
NM_001287246.2:c.805A>G