Canonical Allele Identifier: PA2826211509
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251181
ClinVar RCV Id: RCV000237827 RCV001042933 RCV003165664 RCV003313061
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Ser123Pro
CA10584880
NM_001195798.2:c.367T>C