ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915956348
Gene: CFTR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
821041
ClinVar RCV Id:
RCV001827189
RCV001050257
RCV003331022
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000483.3:p.Cys76Trp
CA4450670
NM_000492.4:c.228T>G