Canonical Allele Identifier: PA2826216066
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251437
ClinVar RCV Id: RCV000237699 RCV000844739 RCV001190236 RCV002392740
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182732.1:p.Gln127Pro
CA10585117
NM_001195803.2:c.380A>C