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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000397829.2:p.[Tyr168_Glu169delinsCysAla;Leu171_Cys172delinsAla;Asp174_Asp192delinsThrAlaSerSerTrpTrpProSerGluAspAlaLysIleSerMetSerValArgIle;Asp194_Gln198delinsThrProAlaAlaSer]
CA2695228139
ENST00000455727.6:c.503_506del