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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000454071.1:p.[Thr766_Ala771delinsGlnCysLeuThrLys;Gly773_Val775delinsTrp;Gly777_Asn780delinsThrLeuLeuAla;Lys782_Val787delinsGluMetArg;Ala789_Leu790del;Ile792Pro;Leu794_Pro795delinsAla]
CA2695228319
ENST00000558518.6:c.2296del