Canonical Allele Identifier: PA2826211529
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 403630
ClinVar RCV Id: RCV000454616
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Cys128Ser
CA16609803
NM_001195798.2:c.383G>C
CA404076327
NM_001195798.2:c.382T>A