Canonical Allele Identifier: PA2826216190
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251503
ClinVar RCV Id: RCV000237172 RCV001854892
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182732.1:p.Cys169Ser
CA10585175
NM_001195803.2:c.506G>C
CA404080933
NM_001195803.2:c.505T>A