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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000397829.2:p.[Val79_Gln85delinsAla;Trp87_Asp90delinsLeuSerSerGly;Gln92_Glu101delinsAlaMetAlaLysTrpThrAlaThrThrAla;Gly103_Leu105del;Leu107_Pro111delinsSerLysAlaVal]
CA2695238664
ENST00000455727.6:c.236_245del