Canonical Allele Identifier: PA2826737662
Gene: BLM HGNC NCBI

Linked Data

ClinVar Variation Id: 454099
ClinVar RCV Id: RCV000526205 RCV000563745 RCV001082616 RCV001030454
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001274175.1:p.Val765Ile
CA7738710
NM_001287246.2:c.2293G>A