Canonical Allele Identifier: PA2826212988
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251685
ClinVar RCV Id: RCV000237249 RCV000791396 RCV002321918 RCV003321575
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.Cys338Arg
CA10585324
NM_001195799.2:c.1012T>C