Canonical Allele Identifier: PA2825041447
Gene: BLM HGNC NCBI

Linked Data

ClinVar Variation Id: 3224366
ClinVar RCV Id: RCV004519092

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000048.1:p.Leu1001Gln
CA393846593
NM_000057.4:c.3002T>A