Allele Registry

Canonical Allele Identifier: PA658802467

Gene: BLM HGNC NCBI

ClinVar RCV:

RCV000628652

RCV001025173

ClinVar Variation:

524788

HGVS (amino-acid)	Matching Registered Transcripts
NP_000048.1:p.Ser212Phe	CA7738318 NM_000057.4:c.635C>T