Allele Registry

Canonical Allele Identifier: PA2580164490

Gene: LDLR HGNC NCBI

ClinVar RCV:

RCV002716048

ClinVar Variation:

1963640

HGVS (amino-acid)	Matching Registered Transcripts
NP_001182727.1:p.Arg350Gly	CA404082860 NM_001195798.2:c.1048C>G