Canonical Allele Identifier: PA645380426
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 252231
ClinVar RCV Id: RCV000238080

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Cys711Phe
CA10585784
NM_000527.5:c.2132G>T