Canonical Allele Identifier: PA645378128
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251687
ClinVar RCV Id: RCV000238258 RCV001256968 RCV001854901 RCV002450745
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Gly382Val
CA10585326
NM_000527.5:c.1145G>T