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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.[Ala221_Cys225delinsProSer;Ile228_Cys237delinsAlaLysIleSerMet;Gln239_Cys250delinsValArgIleProThrProAlaAlaSerSerAla]
CA10585262
ENST00000545707.5:c.661del