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Canonical Allele Identifier: Get Identifier
Gene: SMC1A HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000323421.3:p.[Phe1097_Glu1105delinsSerTrpAlaLeuArgThrLeuLysSer;Tyr1107_Pro1118delinsThrTrpMetAlaSerThrThrThrValTrpLeuLeu;Lys1120_Asp1126delinsAsnAlaSerGlyLeuTrpThr]
CA2579615578
ENST00000322213.9:c.3290del