Canonical Allele Identifier: PA2825180950
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 925994
ClinVar RCV Id: RCV001188277

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Thr713Arg
CA404093993
NM_000527.5:c.2138C>G