Allele Registry

Canonical Allele Identifier: PA916015923

Gene: BLM HGNC NCBI

ClinVar RCV:

RCV000465434

RCV000575229

RCV000724734

RCV001818262

ClinVar Variation:

127477

HGVS (amino-acid)	Matching Registered Transcripts
NP_001274176.1:p.Asn534Ser	CA247014 NM_001287247.2:c.1601A>G