Canonical Allele Identifier: PA2826214877
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_001182729.1:p.Asp247His
CA10585371
NM_001195800.2:c.739G>C