Allele Registry

Canonical Allele Identifier: PA916016345

Gene: BLM HGNC NCBI

ClinVar RCV:

RCV000115281

RCV000234473

RCV000574443

RCV001818261

ClinVar Variation:

127475

HGVS (amino-acid)	Matching Registered Transcripts
NP_001274177.1:p.Met64Val	CA287058 NM_001287248.2:c.190A>G