Canonical Allele Identifier: PA645375963
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251194
ClinVar RCV Id: RCV000237592
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Cys128Phe
CA10584893
NM_000527.5:c.383G>T