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Canonical Allele Identifier: Get Identifier
Gene: CFTR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Transcript change
ENSP00000514456.1:p.Leu165Ter
ENST00000699585.1:c.494del

ENST00000699585.1:c.[494del;496A=]

ENST00000699585.1:c.[494del;496A>G]

ENST00000699585.1:c.[494del;496_497del]

ENST00000699585.1:c.494T>A

ENST00000699585.1:c.494T>G