Canonical Allele Identifier: PA2826213181
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251784
ClinVar RCV Id: RCV000238156 RCV001191368 RCV004017555
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.Ile400Met
CA10585401
NM_001195799.2:c.1200C>G