ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645402937
Gene: CFTR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
411120
ClinVar RCV Id:
RCV000471538
RCV001001893
RCV002489073
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000483.3:p.Tyr122Cys
CA4450714
NM_000492.4:c.365A>G