Allele Registry

Canonical Allele Identifier: PA2826216656

Gene: LDLR HGNC NCBI

ClinVar RCV:

RCV003741392

ClinVar Variation:

2778717

HGVS (amino-acid)	Matching Registered Transcripts
NP_001182732.1:p.Arg313Ile	CA404085166 NM_001195803.2:c.938G>T