ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2741814487
Gene: CFTR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2624962
ClinVar RCV Id:
RCV003377641
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000483.3:p.Cys343Phe
CA4450878
NM_000492.4:c.1028G>T