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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.[Gln222_Cys225delinsSer;Ile228_Cys237delinsAlaLysIleSerMet;Gln239_Gln251delinsValArgIleProThrProAlaAlaSerSerAla]
CA10585263
ENST00000545707.5:c.664del