ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA094352
Gene: CFTR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
53404
ClinVar RCV Id:
RCV000046494
RCV002490611
RCV003473470
RCV000790746
RCV001004276
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000483.3:p.Ile618Thr
CA221010
NM_000492.4:c.1853T>C