Allele Registry

Canonical Allele Identifier: PA2826216198

Gene: LDLR HGNC NCBI

ClinVar RCV:

RCV000238200

RCV003581609

RCV004020953

ClinVar Variation:

251508

HGVS (amino-acid)	Matching Registered Transcripts
NP_001182732.1:p.Ala172Ser	CA10585180 NM_001195803.2:c.514G>T