ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA254121
Gene: CFTR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
7238
ClinVar RCV Id:
RCV000007660
RCV000586415
RCV000506350
RCV001095295
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000483.3:p.Glu217Gly
CA254120
NM_000492.4:c.650A>G