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Canonical Allele Identifier: Get Identifier
Gene: SHANK2 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000386491.1:p.[Ile1172_Gln1174delinsSerGlnSer;Pro1176del;Asn1179_His1188delinsLeuLeuGlnLeuAsn;Trp1190Ser;Lys1192_Asp1197delinsCysGlyLeuAsnGlnMet;Leu1199_Leu1204delinsProIleGlyTrpLysVal]
CA600241157
ENST00000409161.5:c.3513_3522del