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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000453557.1:p.[Thr761_Val765delinsLysLeuTrpAla;Met767_Ala771delinsLeu;Gly773_Val775del;Gly777_Asn780delinsGlu;Lys782_Val787delinsMetArg;Ala789_Leu790del;Ile792Pro;Leu794_Ile796del;Thr798_Glu799del]
CA658653855
ENST00000557933.5:c.2282_2309del