Canonical Allele Identifier: PA2826213408
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 183121
ClinVar RCV Id: RCV000161995 RCV001183446 RCV002478493
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.Val486Ala
CA023535
NM_001195799.2:c.1457T>C