Canonical Allele Identifier: PA2826213732
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 252115
ClinVar RCV Id: RCV000238205 RCV000775081
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.Ala602Val
CA10585683
NM_001195799.2:c.1805C>T