ClinGen Allele Registry
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Canonical Allele Identifier:
PA328117
Gene: CFTR
HGNC
NCBI
Linked Data
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_000483.3:p.Ser1196Ter
NM_000492.4:c.3587C>A
NM_000492.4:c.3587C>G