Allele Registry

Canonical Allele Identifier: PA2826217139

Gene: LDLR HGNC NCBI

ClinVar RCV:

RCV000237251

RCV002411095

ClinVar Variation:

252064

HGVS (amino-acid)	Matching Registered Transcripts
NP_001182732.1:p.Glu488Val	CA10585644 NM_001195803.2:c.1463A>T