Allele Registry

Canonical Allele Identifier: PA916016540

Gene: BLM HGNC NCBI

ClinVar RCV:

RCV000115307

RCV000475273

RCV000566047

RCV001818265

ClinVar Variation:

127499

HGVS (amino-acid)	Matching Registered Transcripts
NP_001274177.1:p.Glu768Lys	CA287100 NM_001287248.2:c.2302G>A