Canonical Allele Identifier: PA915998875
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251421
ClinVar RCV Id: RCV000237333 RCV000791408
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Arg237Cys
CA10585102
NM_001195798.2:c.709C>T