Canonical Allele Identifier: PA2826215612
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 430792
ClinVar RCV Id: RCV000495860
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182729.1:p.Leu514Phe
CA404093636
NM_001195800.2:c.1540C>T