Canonical Allele Identifier: PA645380189
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 430792
ClinVar RCV Id: RCV000495860

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Leu682Phe
CA404093636
NM_000527.5:c.2044C>T