Canonical Allele Identifier: PA915998447
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251256
ClinVar RCV Id: RCV000237691 RCV000823784
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Cys167Tyr
CA10584948
NM_001195798.2:c.500G>A