ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA146696
Gene: CFTR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
7126
ClinVar RCV Id:
RCV000007546
RCV000078978
RCV001009496
RCV001327947
RCV001281707
RCV001642200
RCV002255993
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000483.3:p.Phe508Cys
CA146695
NM_000492.4:c.1523T>G