Canonical Allele Identifier: PA2825041389
Gene: BLM HGNC NCBI

Linked Data

ClinVar Variation Id: 1797380
ClinVar RCV Id: RCV002438005

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000048.1:p.Pro967Ser
CA393846372
NM_000057.4:c.2899C>T