Canonical Allele Identifier: PA916000704
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 430788
ClinVar RCV Id: RCV000495870
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Ser610_Val613dup
CA645373244
NM_001195798.2:c.1829_1840dup