Allele Registry

Canonical Allele Identifier: PA658677980

Gene: BLM HGNC NCBI

ClinVar RCV:

RCV000557191

RCV002341244

ClinVar Variation:

454155

HGVS (amino-acid)	Matching Registered Transcripts
NP_000048.1:p.Asp153His	CA7738295 NM_000057.4:c.457G>C