Canonical Allele Identifier: PA2826212133
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 2501630
ClinVar RCV Id: RCV003227425
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.Ile40Phe
CA404074754
NM_001195799.2:c.118A>T