Canonical Allele Identifier: PA2826215713
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 684870
ClinVar RCV Id: RCV000845552 RCV003478524
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182729.1:p.Gln554Arg
CA404094825
NM_001195800.2:c.1661A>G