Canonical Allele Identifier: PA2826216405
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 1946878
ClinVar RCV Id: RCV002654045
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182732.1:p.Gln232Lys
CA404083166
NM_001195803.2:c.694C>A