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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.[Gly601_Asn602del;Lys604_Val609delinsMetArg;Ala611_Leu612del;Ile614_Leu616del;Ile618del;Leu620_Leu630delinsAla]
CA039842
ENST00000545707.5:c.1802del