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Canonical Allele Identifier: Get Identifier
Gene: POMT1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000404119.1:p.[Gly618del;Cys621Gly;Gly624_Trp625delinsTrpGly;Asn628_Tyr629delinsCysArgTrp;Leu630_Pro631insGlySerGluLeu;Phe632_Phe633delinsProVal;Met635delinsProAspGly;Lys637Asp;Phe640Pro;Tyr642_Tyr644delinsPro;Ala647_Leu648insArg]
CA590946806
ENST00000423007.5:c.1837_1852dup