Canonical Allele Identifier: PA2826212255
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 927935
ClinVar RCV Id: RCV001191508
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.Gln113His
CA404076573
NM_001195799.2:c.339G>C
CA404076575
NM_001195799.2:c.339G>T