Canonical Allele Identifier: PA2825179172
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 921932
ClinVar RCV Id: RCV001181687
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Ala394Ser
CA404083971
NM_000527.5:c.1180G>T