ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA094317
Gene: CFTR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
38850
ClinVar RCV Id:
RCV000047138
RCV000079009
RCV001095251
RCV001705619
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000483.3:p.Ile148Thr
CA146708
NM_000492.4:c.443T>C