Canonical Allele Identifier: PA2826215585
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 252172
ClinVar RCV Id: RCV000237663
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182729.1:p.Ser505Arg
CA038161
NM_001195800.2:c.1513A>C
CA404093523
NM_001195800.2:c.1515C>G
CA404093524
NM_001195800.2:c.1515C>A