ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580118980
Gene: CFTR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1693960
ClinVar RCV Id:
RCV002261829
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000483.3:p.Ala797Gly
CA368981111
NM_000492.4:c.2390C>G