ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2580120096
Gene: CFTR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1728143
ClinVar RCV Id:
RCV002320775
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000483.3:p.Pro1050Ala
CA164966275
NM_000492.4:c.3148C>G