Allele Registry

Canonical Allele Identifier: PA2826737484

Gene: BLM HGNC NCBI

ClinVar RCV:

RCV000169338

RCV001014085

RCV001310295

ClinVar Variation:

188963

HGVS (amino-acid)	Matching Registered Transcripts
NP_001274175.1:p.Gln672Arg	CA274191 NM_001287246.2:c.2015A>G