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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.[Asp570del;Ser572_Leu574delinsPro;Ala577_Pro579delinsCysLeu;Leu581_Met589delinsProProLeuGly;His591_Ala598delinsProArgTrpArg]
CA2497030104
ENST00000545707.5:c.1704del