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Canonical Allele Identifier: Get Identifier
Gene: MT-ATP8 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000355265.1:p.[Leu18Tyr;Leu20_Leu26delinsIleProHisHisProThr;Ile28_Leu29del;Thr31_His34delinsIleLysHisLys;Pro37_Ser38insThr;Pro39delinsLeuThr;Pro41_Ile42delinsAlaHis;Ile44Asn;Asn46_Tyr47delinsLysLeu]
CA2573104998
ENST00000361851.1:c.52_53del