Canonical Allele Identifier: PA2825178960
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 3075482
ClinVar RCV Id: RCV004017000
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Glu372Gln
CA404083470
NM_000527.5:c.1114G>C