Canonical Allele Identifier: PA2826213396
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 183119
ClinVar RCV Id: RCV000161993 RCV000237418
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.Val483Met
CA023529
NM_001195799.2:c.1447G>A