Canonical Allele Identifier: PA2826216888
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 183121
ClinVar RCV Id: RCV000161995 RCV001183446 RCV002478493
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182732.1:p.Val400Ala
CA023535
NM_001195803.2:c.1199T>C