Canonical Allele Identifier: PA2826215364
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 226373
ClinVar RCV Id: RCV000211702
ClinVar Variation Id: 843511
ClinVar RCV Id: RCV001046157
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182729.1:p.Gly425del
CA10576319
NM_001195800.2:c.1272_1274del
CA916081226
NM_001195800.2:c.1269_1272delinsT