ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA093683
Gene: CFTR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
53765
ClinVar RCV Id:
RCV000577295
RCV000985692
RCV003474583
RCV003483455
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000483.3:p.Arg117Leu
CA327222
NM_000492.4:c.350G>T