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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000252444.6:p.[Gly110delinsAlaThr;Arg112_Cys113delinsAlaLys;Arg115_Ile126delinsThrSerSerSerAlaLysThrGlyAsnAlaSerProThr;Tyr128_Gly134delinsGlySerAlaMetAlaAlaLeu;Glu137_Gln139delinsArg]
CA2582471925
ENST00000252444.10:c.329del