ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA094639
Gene: CFTR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
53425
ClinVar RCV Id:
RCV000056357
RCV000724153
RCV001826628
RCV002247433
RCV000660821
RCV001004231
RCV003473472
RCV002496711
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000483.3:p.Pro67Leu
CA345310
NM_000492.4:c.200C>T