Canonical Allele Identifier: PA2826213099
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251748
ClinVar RCV Id: RCV000238192 RCV001174782
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.Asp374His
CA10585371
NM_001195799.2:c.1120G>C