Canonical Allele Identifier: PA2826213819
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 252178
ClinVar RCV Id: RCV000238301 RCV003581638
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.Cys636Tyr
CA10585732
NM_001195799.2:c.1907G>A