Canonical Allele Identifier: PA2826214513
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251515
ClinVar RCV Id: RCV000237414 RCV001293735
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182729.1:p.Cys134Tyr
CA10585186
NM_001195800.2:c.401G>A