Canonical Allele Identifier: PA645376300
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251272
ClinVar RCV Id: RCV000237161 RCV000587092 RCV003477847 RCV004020950
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Cys173Arg
CA10584963
NM_000527.5:c.517T>C