Canonical Allele Identifier: PA2826739736
Gene: BLM HGNC NCBI

Linked Data

ClinVar Variation Id: 1195932
ClinVar RCV Id: RCV001559218 RCV002440797
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001274176.1:p.Met1006Lys
CA393846624
NM_001287247.2:c.3017T>A