Allele Registry

Canonical Allele Identifier: PA658677977

Gene: BLM HGNC NCBI

ClinVar RCV:

RCV000564374

RCV000791833

ClinVar Variation:

485330

HGVS (amino-acid)	Matching Registered Transcripts
NP_000048.1:p.Asp146Val	CA274728070 NM_000057.4:c.437A>T