Canonical Allele Identifier: PA916016654
Gene: BLM HGNC NCBI

Linked Data

ClinVar Variation Id: 454147
ClinVar RCV Id: RCV000525035 RCV001021669
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001274177.1:p.Pro965Leu
CA7739174
NM_001287248.2:c.2894C>T