Allele Registry

Canonical Allele Identifier: PA157387

Gene: BLM HGNC NCBI

ClinVar RCV:

RCV000120227

RCV000550035

RCV000567138

RCV000766552

ClinVar Variation:

127489

HGVS (amino-acid)	Matching Registered Transcripts
NP_000048.1:p.Glu880Gln	CA157385 NM_000057.4:c.2638G>C