ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2580120101
Gene: CFTR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1728142
ClinVar RCV Id:
RCV002320774
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000483.3:p.Pro1050Thr
CA368991766
NM_000492.4:c.3148C>A