Allele Registry

Canonical Allele Identifier: PA2826740593

Gene: BLM HGNC NCBI

ClinVar RCV:

RCV000465434

RCV000575229

RCV000724734

RCV001818262

ClinVar Variation:

127477

HGVS (amino-acid)	Matching Registered Transcripts
NP_001274177.1:p.Asn159Ser	CA247014 NM_001287248.2:c.476A>G