Canonical Allele Identifier: PA235406
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 183094
ClinVar RCV Id: RCV000161964 RCV002505197
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Arg257His
CA023759
NM_000527.5:c.770_771delinsAC