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Canonical Allele Identifier: Get Identifier
Gene: POMT1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000503281.1:p.[Ala622_Gly624delinsCysArg;Ala626_Tyr629delinsLeuGlySerGlu;Phe632_Phe633delinsProVal;Met635delinsProAspGly;Lys637Asp;Phe640Pro;Tyr642_Tyr644delinsPro;Leu648Arg;Phe650_Gln651delinsHisLeuPro]
CA2692219508
ENST00000676640.1:c.1863dup