Canonical Allele Identifier: PA916000865
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 252129
ClinVar RCV Id: RCV000238503 RCV001854909
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Val653Phe
CA10585695
NM_001195798.2:c.1957G>T