Canonical Allele Identifier: PA645378266
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 431524
ClinVar RCV Id: RCV000497141 RCV002356812
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Glu408Asp
CA305300066
NM_000527.5:c.1224G>C
CA404084717
NM_000527.5:c.1224G>T