Canonical Allele Identifier: PA2825041506
Gene: BLM HGNC NCBI

Linked Data

ClinVar Variation Id: 967424
ClinVar RCV Id: RCV001242329

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000048.1:p.Thr1034Lys
CA393846837
NM_000057.4:c.3101C>A