Canonical Allele Identifier: PA2826215675
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 1786148
ClinVar RCV Id: RCV002417525
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182729.1:p.Ala537_Asp539delinsGly
CA2580096711
NM_001195800.2:c.1610_1616delinsG