ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA891849247
Gene: CFTR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
570891
ClinVar RCV Id:
RCV000691872
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000483.3:p.Ile1005Val
CA368990397
NM_000492.4:c.3013A>G