ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499232904
Gene: CFTR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1018653
ClinVar RCV Id:
RCV001317984
RCV001835583
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000483.3:p.Tyr122Asn
CA368974492
NM_000492.4:c.364T>A