Canonical Allele Identifier: PA2826213899
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_001182728.1:p.Ala664_Asp666delinsGly
CA2580096711
NM_001195799.2:c.1991_1997delinsG