Canonical Allele Identifier: PA2826215533
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 1008168
ClinVar RCV Id: RCV001305459
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182729.1:p.Val485Ala
CA305302665
NM_001195800.2:c.1454T>C
CA2322775423
NM_001195800.2:c.1454_1455delinsCC