Canonical Allele Identifier: PA2825179146
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 1740423
ClinVar RCV Id: RCV002333842
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Cys392Ser
CA404083917
NM_000527.5:c.1174T>A
CA404083952
NM_000527.5:c.1175G>C