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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.[Lys638_Asn647delinsArgThrSerThrAlaSerThrLeuThrThr;Val649_Gly666delinsSerIleArgArgProGlnArgMetArgSerThrPheAlaThrThrArgThr]
CA2499225332
ENST00000545707.5:c.1908del