Canonical Allele Identifier: PA645375850
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251177
ClinVar RCV Id: RCV000238518
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Cys121Phe
CA10584876
NM_000527.5:c.362G>T