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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.[Leu15_Ala19delinsProArgArgGly;Thr21_Val23delinsAspCysSer;Asp25del;Cys27_Glu28delinsGlnMet;Asn30_Trp44delinsLysLysArgValProValProArgArgGluMetHisLeuLeuGln;Val45_Cys46insGly]
CA2497030115
ENST00000545707.5:c.44_45del