ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA327151
Gene: CFTR
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000576956
RCV003474576
RCV004526606
ClinVar Variation:
53721
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000483.3:p.Ser1118Cys
CA327150
NM_000492.4:c.3353C>G