ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA327146
Gene: CFTR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
53718
ClinVar RCV Id:
RCV001009499
RCV000577688
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000483.3:p.Pro111Ala
CA327145
NM_000492.4:c.331C>G