ClinGen Allele Registry
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Canonical Allele Identifier:
PA326968
Gene: CFTR
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000483.3:p.Leu973Phe
CA326967
NM_000492.4:c.2916_2917delinsAT
CA4451328
NM_000492.4:c.2917C>T