Allele Registry

Canonical Allele Identifier: PA2826216103

Gene: LDLR HGNC NCBI

ClinVar RCV:

RCV000211615

RCV001037156

RCV002255136

RCV004017503

ClinVar Variation:

226334

HGVS (amino-acid)	Matching Registered Transcripts
NP_001182732.1:p.Asp139Asn	CA10576288 NM_001195803.2:c.415G>A