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Canonical Allele Identifier: Get Identifier
Gene: SHANK3 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000499475.1:p.[Val738_Asp748delinsTrpArgArgLeuThrHisAlaAlaProAlaThr;His750_Ile757delinsThrTrpArgProGlnAlaPro;Thr759_Ser767delinsProArgCysProAlaCysProPro]
CA2657581379
ENST00000664402.2:c.2212del