Canonical Allele Identifier: PA2825179102
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 1677867
ClinVar RCV Id: RCV002223548 RCV003093880
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.His388_Ala391del
CA2573050596
NM_000527.5:c.1162_1173del