ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA913194189
Gene: CFTR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
632752
ClinVar RCV Id:
RCV000780135
RCV001835955
RCV002442601
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000483.3:p.Arg764Gln
CA368980869
NM_000492.4:c.2291G>A