Canonical Allele Identifier: PA645376969
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251394
ClinVar RCV Id: RCV000237123 RCV000421699
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Glu228Ala
CA10585081
NM_000527.5:c.683A>C