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Canonical Allele Identifier: Get Identifier
Gene: SMC1A HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000364489.7:p.[Ile583Gln;Lys585_Cys591del;Asn593Pro;Leu595del;Asp598_Gln612delinsLeuTrpGlnCysProCysLeu]
CA2580612341
ENST00000375340.10:c.1747_1748del