Canonical Allele Identifier: PA2826736091
Gene: BLM HGNC NCBI

Linked Data

ClinVar Variation Id: 133710
ClinVar RCV Id: RCV000120241 RCV000330317 RCV000562376 RCV001030679 RCV001252853 RCV001800407 RCV003915190
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001274175.1:p.Leu60Ile
CA157427
NM_001287246.2:c.178T>A