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Canonical Allele Identifier: Get Identifier
Gene: GAMT HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000252288.1:p.[Tyr49_His51delinsLeuTyr;Leu53Arg;Ala55_Gly62delinsGlyArgArgArgLeuLeuGln;Val64_Val67delinsGlyProGlyPro;Phe69Gly;Met71_Ala75delinsLeuTrpHisGlyHisArg;Ser76_Lys77insVal;Val78Gly]
CA2317700399
ENST00000252288.8:c.144dup