Allele Registry

Canonical Allele Identifier: PA2826216939

Gene: LDLR HGNC NCBI

ClinVar RCV:

RCV000237102

RCV001854904

RCV004017561

ClinVar Variation:

251947

HGVS (amino-acid)	Matching Registered Transcripts
NP_001182732.1:p.Gly419Val	CA10585538 NM_001195803.2:c.1256G>T