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: CFTR
HGNC
NCBI
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
XP_011514054.1:p.Cys1430Ter
XM_011515752.1:c.4287_4288del
XM_011515752.1:c.[4287_4288del;4291G>A]
XM_011515752.1:c.[4287_4288del;4291G=]
XM_011515752.1:c.[4287_4288del;4292A=]
XM_011515752.1:c.4290T>A
XM_011515752.1:c.4290_4291del
