Allele Registry

Canonical Allele Identifier: PA2826217091

Gene: LDLR HGNC NCBI

ClinVar RCV:

RCV000497106

RCV002230972

RCV004008163

ClinVar Variation:

431535

3069619

HGVS (amino-acid)	Matching Registered Transcripts
NP_001182732.1:p.Glu473Asp	CA036707 NM_001195803.2:c.1419G>T CA404089805 NM_001195803.2:c.1419G>C