Allele Registry

Canonical Allele Identifier: PA2826215237

Gene: LDLR HGNC NCBI

ClinVar RCV:

RCV000237102

RCV001854904

RCV004017561

ClinVar Variation:

251947

HGVS (amino-acid)	Matching Registered Transcripts
NP_001182729.1:p.Gly378Val	CA10585538 NM_001195800.2:c.1133G>T