ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA094722
Gene: CFTR
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000007575
RCV000763571
RCV001004455
RCV001810836
RCV003473027
ClinVar Variation:
7155
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000483.3:p.Ser492Phe
CA325551
NM_000492.4:c.1475C>T