ClinGen Allele Registry
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This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.
Canonical Allele Identifier:
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Gene: SMC1A
HGNC
NCBI
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_006297.2:p.[Gln483_Glu493del;Ser495_Pro512del]
CA2739273512
NM_006306.4:c.1447del