Canonical Allele Identifier: PA2826212338
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 3686
ClinVar RCV Id: RCV000003871 RCV000161958 RCV000588687 RCV002345224
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.Ser136Leu
CA023715
NM_001195799.2:c.407C>T