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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000440520.1:p.[Lys43_Ser49delinsAsnGlySerAlaMetAla;Glu51_Glu58delinsLeuSerAlaArgMetAlaLeuMet;Gln60_Ser64delinsProArgArgArgAla;Lys66_Phe73delinsProArgArgAlaProArgThrSer]
CA2497030145
ENST00000535915.5:c.129del