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Canonical Allele Identifier: Get Identifier
Gene: SMC1A HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000502524.1:p.[Leu455_Leu462delinsAlaGluProGlyAspGlyAlaAlaArg;Asp464_Gln470delinsCysProHisArgProProGly;Ser472_Glu483delinsGlnProProAlaAlaLysGlyArgAspAsnGlyLys]
CA2843207941
ENST00000675504.1:c.1361dup