Canonical Allele Identifier: PA2826215780
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 3070251
ClinVar RCV Id: RCV004011769
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182729.1:p.Val597Ala
CA404095753
NM_001195800.2:c.1790T>C