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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000437639.1:p.[Cys27_Glu28delinsTrp;Asn30_Trp44delinsLysLysArgValProValProArgArgGluMetHisLeuLeuGln;Cys46_Asp47del;Ser49_Cys52delinsLeuArgTrp;Asp54_Ser56delinsArg]
CA2695202626
ENST00000545707.5:c.80dup