ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA240240
Gene: CFTR
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000483.3:p.Phe693Leu
CA240239
NM_000492.4:c.2079T>G
CA326744
NM_000492.4:c.2077T>C
CA368979583
NM_000492.4:c.2079T>A