Allele Registry

Canonical Allele Identifier: PA2826216669

Gene: LDLR HGNC NCBI

ClinVar RCV:

RCV000238264

ClinVar Variation:

251790

HGVS (amino-acid)	Matching Registered Transcripts
NP_001182732.1:p.Trp316Ser	CA10585407 NM_001195803.2:c.947G>C