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Canonical Allele Identifier: Get Identifier
Gene: POMT1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001361619.1:p.[Leu598_Gln599insGluGluHisLeu;Ser601_Ala605delinsProGlyGlyGly;Val608_Cys615delinsLeuLeuArgValProArgValGln;Val617_Asn619delinsAlaAlaPro;Leu621_Pro623delinsHis;Thr625_Tyr626delinsArg;Asp628Gln]
CA5293918
NM_001374690.1:c.1795_1796del