Canonical Allele Identifier: PA2825180948
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 2419907
ClinVar RCV Id: RCV003118432

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Thr713Ile
CA404094000
NM_000527.5:c.2138C>T