Allele Registry

Canonical Allele Identifier: PA2826216942

Gene: LDLR HGNC NCBI

ClinVar RCV:

RCV000238388

RCV000775074

ClinVar Variation:

251949

HGVS (amino-acid)	Matching Registered Transcripts
NP_001182732.1:p.Leu420Pro	CA10585539 NM_001195803.2:c.1259T>C