Allele Registry

Canonical Allele Identifier: PA2826213457

Gene: LDLR HGNC NCBI

ClinVar RCV:

RCV000237102

RCV001854904

RCV004017561

ClinVar Variation:

251947

HGVS (amino-acid)	Matching Registered Transcripts
NP_001182728.1:p.Gly505Val	CA10585538 NM_001195799.2:c.1514G>T