Canonical Allele Identifier: PA2826738199
Gene: BLM HGNC NCBI

Linked Data

ClinVar Variation Id: 1021505
ClinVar RCV Id: RCV001321284
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001274175.1:p.His1014Asp
CA393846695
NM_001287246.2:c.3040C>G