Allele Registry

Canonical Allele Identifier: PA658802596

Gene: BLM HGNC NCBI

ClinVar RCV:

RCV000628645

RCV001021691

RCV001030462

ClinVar Variation:

524781

HGVS (amino-acid)	Matching Registered Transcripts
NP_000048.1:p.Ala1341Val	CA7739175 NM_000057.4:c.4022C>T