ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA094743
Gene: CFTR
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000483.3:p.Ser549Arg
CA254107
NM_000492.4:c.1647T>G
CA254108
NM_000492.4:c.1645A>C
CA368976076
NM_000492.4:c.1647T>A