Canonical Allele Identifier: PA2826215540
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 3071879
ClinVar RCV Id: RCV004011909
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182729.1:p.His488Tyr
CA404093249
NM_001195800.2:c.1462C>T