Canonical Allele Identifier: PA2826217355
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 431548
ClinVar RCV Id: RCV000497247 RCV001178331 RCV001805116
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182732.1:p.Ala593Val
CA039683
NM_001195803.2:c.1778C>T