Canonical Allele Identifier: PA2825208698
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 1321226
ClinVar RCV Id: RCV002227553 RCV003229059
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Cys243Ser
CA404079600
NM_000527.5:c.727T>A
CA404079610
NM_000527.5:c.728G>C