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Canonical Allele Identifier: Get Identifier
Gene: MYO7A HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001120652.1:p.Lys2175_Ter2176insLeuThrValThrGlyArgCysTrpPheHisAlaCysSerArgGlySerSerGlyPheArgProIleSerTyrProCysSerTrpGlyArgLeuMetProSerArgGlnArgGlyTrpAlaGlyGlnProProLeuThrIleProThrGlyProLeuMetPhePheGln
CA381939567
NM_001127180.2:c.6527G>T