Canonical Allele Identifier: PA916000194
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251858
ClinVar RCV Id: RCV000237157
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Ile488Ser
CA10585468
NM_001195798.2:c.1463T>G