Canonical Allele Identifier: PA658678102
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_000048.1:p.Val765Ile
CA7738710
NM_000057.4:c.2293G>A