Canonical Allele Identifier: PA2826215417
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 252051
ClinVar RCV Id: RCV000238385 RCV003581632
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182729.1:p.Pro440Leu
CA10585631
NM_001195800.2:c.1319C>T
CA645611147
NM_001195800.2:c.1319_1320delinsTT