Allele Registry

Canonical Allele Identifier: PA658678041

Gene: BLM HGNC NCBI

ClinVar Variation Id: 485334

HGVS (amino-acid)	Matching Registered Transcripts
NP_000048.1:p.Glu399Lys	CA7738481 NM_000057.4:c.1195G>A