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Canonical Allele Identifier: Get Identifier
Gene: SHANK3 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000489407.2:p.[Leu492_Ala494del;Lys497_Arg500delinsLeuArgProSer;Lys502del;Pro504_Asp513delinsAla;Gln515_Glu516del;Ala519_Ala521delinsProTrp]
CA2657583375
ENST00000445220.7:c.1475del