ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA242299
Gene: CFTR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
195732
ClinVar RCV Id:
RCV000589147
RCV001320588
RCV001826892
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000483.3:p.Val1272Glu
CA242298
NM_000492.4:c.3815T>A