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Canonical Allele Identifier: Get Identifier
Gene: POMT1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000404119.2:p.[Gly637del;Cys640Gly;Gly643_Trp644delinsTrpGly;Asn647_Tyr648delinsCysArgTrp;Leu649_Pro650insGlySerGluLeu;Phe651_Phe652delinsProVal;Met654delinsProAspGly;Lys656Asp;Phe659Pro;Tyr661_Tyr663delinsPro;Ala666_Leu667insArg]
CA590946806
ENST00000423007.6:c.1894_1909dup