Allele Registry

Canonical Allele Identifier: PA2573069412

Gene: BLM HGNC NCBI

ClinVar RCV:

RCV001801116

RCV001869452

ClinVar Variation:

1330099

HGVS (amino-acid)	Matching Registered Transcripts
NP_001274176.1:p.His963Tyr	CA344516 NM_001287247.2:c.2887C>T