Canonical Allele Identifier: PA2825178757
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 982979
ClinVar RCV Id: RCV001262749
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Cys352del
CA1139666267
NM_000527.5:c.1054_1056del