ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA326771
Gene: CFTR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
53454
ClinVar RCV Id:
RCV001369922
RCV003466904
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000483.3:p.Ser737Phe
CA326770
NM_000492.4:c.2210C>T