ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580121658
Gene: CFTR
HGNC
NCBI
Linked Data
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Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_000483.3:p.Gln1382Lys
NM_000492.4:c.4144C>A