Canonical Allele Identifier: PA645378288
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251745
ClinVar RCV Id: RCV000238498 RCV001377885
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Met412Thr
CA10585369
NM_000527.5:c.1235T>C