ClinGen Allele Registry
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Canonical Allele Identifier:
PA093669
Gene: CFTR
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000483.3:p.Arg117His
CA221026
NM_000492.4:c.350G>A
CA353800
NM_000492.4:c.[350G>A;1210-6del]
CA891862588
NM_000492.4:c.[350G>A;1210-7_1210-6del]