Canonical Allele Identifier: PA2826736725
Gene: BLM HGNC NCBI

Linked Data

ClinVar Variation Id: 127518
ClinVar RCV Id: RCV000120244 RCV000226028 RCV000575545 RCV000656781 RCV003492470
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001274175.1:p.Lys323Arg
CA157436
NM_001287246.2:c.968A>G