ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA273033
Gene: CFTR
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000483.3:p.Asp373Asn
CA273032
NM_000492.4:c.1117G>A