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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000437639.1:p.[Thr588_Ala593delinsGlnCysLeuThrLys;Gly595_Val597delinsTrp;Gly599_Asn602delinsThrLeuLeuAla;Lys604_Val609delinsGluMetArg;Ala611_Leu612del;Ile614Pro;Leu616_Pro617delinsAla]
CA2695228319
ENST00000545707.5:c.1762del