Allele Registry

Canonical Allele Identifier: PA916015633

Gene: BLM HGNC NCBI

ClinVar RCV:

RCV000171242

RCV000673383

RCV001014270

RCV002298500

ClinVar Variation:

191064

HGVS (amino-acid)	Matching Registered Transcripts
NP_001274176.1:p.Glu69Lys	CA235943 NM_001287247.2:c.205G>A