Canonical Allele Identifier: PA300491
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 183105
ClinVar RCV Id: RCV000161976 RCV000215066 RCV000238015 RCV001201392 RCV002399588
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Gly335Ser
CA023402
NM_000527.5:c.1003G>A