Canonical Allele Identifier: PA645378356
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 226353
ClinVar RCV Id: RCV000211588
ClinVar Variation Id: 251767
ClinVar RCV Id: RCV000238117 RCV002519847
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Val429Leu
CA10576303
NM_000527.5:c.1285G>C
CA10585386
NM_000527.5:c.1285G>T