Allele Registry

Canonical Allele Identifier: PA2825180836

Gene: LDLR HGNC NCBI

ClinVar RCV:

RCV003582481

RCV004369053

ClinVar Variation:

2713547

HGVS (amino-acid)	Matching Registered Transcripts
NP_000518.1:p.Pro685Arg	CA404093683 NM_000527.5:c.2054C>G