ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA093527
Gene: CFTR
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000577110
RCV000587814
RCV001327956
RCV001731339
RCV003474584
ClinVar Variation:
53774
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000483.3:p.Ala120Thr
CA327235
NM_000492.4:c.358G>A