Canonical Allele Identifier: PA2826214071
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 1024550
ClinVar RCV Id: RCV001324750
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.Leu758Phe
CA040651
NM_001195799.2:c.2272C>T