Allele Registry

Canonical Allele Identifier: PA2826741483

Gene: BLM HGNC NCBI

ClinVar RCV:

RCV001801116

RCV001869452

ClinVar Variation:

1330099

HGVS (amino-acid)	Matching Registered Transcripts
NP_001274177.1:p.His588Tyr	CA344516 NM_001287248.2:c.1762C>T