Canonical Allele Identifier: PA645375790
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251165
ClinVar RCV Id: RCV000237238
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Cys116_Ile122del
CA10584865
NM_000527.5:c.347_367del