ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA658803775
Gene: CFTR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
497611
ClinVar RCV Id:
RCV000591043
RCV000625939
RCV002491176
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000483.3:p.His139Pro
CA368974738
NM_000492.4:c.416A>C