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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.[Gly773_Asp774del;Gly777_Asn780delinsThrLeuLeuAla;Lys782_Val787delinsGluMetArg;Ala789_Leu790del;Ile792Pro;Leu794_Ile796del;Thr798_Leu802del]
CA10585825
ENST00000557933.5:c.2317_2318insTA