ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA327096
Gene: CFTR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
53683
ClinVar RCV Id:
RCV000586398
RCV000670817
RCV002228158
RCV004525827
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000483.3:p.Ala1067Val
CA327095
NM_000492.4:c.3200C>T