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Canonical Allele Identifier: Get Identifier
Gene: SHANK2 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
XP_011543156.1:p.[Ile1772_Gln1774delinsSerGlnSer;Pro1776del;Asn1779_His1788delinsLeuLeuGlnLeuAsn;Trp1790Ser;Lys1792_Asp1797delinsCysGlyLeuAsnGlnMet;Leu1799_Leu1804delinsProIleGlyTrpLysVal]
CA600241157
XM_011544854.1:c.5313_5322del