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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.[Asp774_Asn780delinsGluLeuLeuAlaGlu;Lys782_Val787delinsMetArg;Ala789_Leu790del;Ile792Pro;Leu794_Ile796del;Thr798_Ser804del]
CA039767
ENST00000557933.5:c.2322del