ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580117112
Gene: CFTR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2168133
ClinVar RCV Id:
RCV003092828
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000483.3:p.Leu475Val
CA368984362
NM_000492.4:c.1423C>G