Canonical Allele Identifier: PA916016643
Gene: BLM HGNC NCBI

Linked Data

ClinVar Variation Id: 128530
ClinVar RCV Id: RCV000116501 RCV000281046 RCV000566425 RCV001530630
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001274177.1:p.Val946Ile
CA152047
NM_001287248.2:c.2836G>A