Canonical Allele Identifier: PA2826214669
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251622
ClinVar RCV Id: RCV000237561 RCV000586287 RCV002401933
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182729.1:p.Cys184Trp
CA10585271
NM_001195800.2:c.552C>G