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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.[Ala1171_Gln1177delinsGlnIleThrSerArgSer;Thr1179_Ile1187delinsArgLeuAlaThrSerArgProSerSer;Lys1190_Tyr1194delinsSerArgArgSerSer;Lys1196_Leu1200delinsProArgProArgAlaSer]
CA2579615490
ENST00000322213.9:c.3511del