Canonical Allele Identifier: PA2826214728
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 369848
ClinVar RCV Id: RCV000408876 RCV002230212 RCV002275000 RCV002429335
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182729.1:p.Cys200Arg
CA10654849
NM_001195800.2:c.598T>C