ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA094204
Gene: CFTR
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000007563
RCV000224170
RCV001004234
RCV001831534
RCV002490334
RCV003473021
ClinVar Variation:
7143
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000483.3:p.Gly85Glu
CA340647
NM_000492.4:c.254G>A