Canonical Allele Identifier: PA2826214137
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 2681998
ClinVar RCV Id: RCV003477290
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.Asp793His
CA404099494
NM_001195799.2:c.2377G>C