Canonical Allele Identifier: PA2573185445
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 1321228
ClinVar RCV Id: RCV002227555
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Lys393Thr
CA404083961
NM_001195798.2:c.1178A>C