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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000453513.2:p.[Arg78del;Asn80_Gln85delinsSerThrAlaAla;Trp87_Asp90delinsLeuSerSerGly;Gln92_Glu101delinsAlaMetAlaLysTrpThrAlaThrThrAla;Gly103_Cys104delinsThrSerLysAlaVal;Lys107Arg]
CA10584800
ENST00000560467.2:c.232del