Canonical Allele Identifier: PA658804382
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 523729
ClinVar RCV Id: RCV000627183 RCV001176527 RCV001284635 RCV002438614
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Glu337Lys
CA031180
NM_000527.5:c.1009G>A