Allele Registry

Canonical Allele Identifier: PA2826217158

Gene: LDLR HGNC NCBI

ClinVar RCV:

RCV000238037

RCV000812951

ClinVar Variation:

252092

HGVS (amino-acid)	Matching Registered Transcripts
NP_001182732.1:p.Asp495Asn	CA10585663 NM_001195803.2:c.1483G>A