Canonical Allele Identifier: PA2825041456
Gene: BLM HGNC NCBI

Linked Data

ClinVar Variation Id: 1410176
ClinVar RCV Id: RCV001916319

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000048.1:p.Leu1004His
CA393846612
NM_000057.4:c.3011T>A