Canonical Allele Identifier: PA2826217365
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 630377
ClinVar RCV Id: RCV000775616 RCV003478469 RCV004001457
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182732.1:p.Val597Ile
CA039774
NM_001195803.2:c.1789G>A