Canonical Allele Identifier: PA645376862
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251361
ClinVar RCV Id: RCV000237798
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Cys222Gly
CA10585051
NM_000527.5:c.664T>G