Canonical Allele Identifier: PA2825041399
Gene: BLM HGNC NCBI

Linked Data

ClinVar Variation Id: 1428408
ClinVar RCV Id: RCV001948269
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000048.1:p.Glu971Lys
CA393846396
NM_000057.4:c.2911G>A