ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA326589
Gene: CFTR
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000046399
RCV000660826
RCV001004228
RCV001009396
RCV003473461
RCV003480043
ClinVar Variation:
53325
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000483.3:p.Glu56Lys
CA326588
NM_000492.4:c.166G>A