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Canonical Allele Identifier: Get Identifier
Gene: PDHA1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000438550.1:p.[Ala357_Asp363delinsProSerLeu;Glu365Arg;Pro367Ile;Glu369_Glu370delinsSerHis;Gly372_Ser377delinsTrpLysSerTrpAlaThrThr;Asp379Thr;Pro381_Gly386delinsAlaThrHisLeuLeuLysPheValVal]
CA2579566469
ENST00000545074.5:c.1069del