ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA328078
Gene: CFTR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
53167
ClinVar RCV Id:
RCV000056338
RCV000724655
RCV001004248
RCV002496707
RCV003473441
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000483.3:p.Ser341Pro
CA328077
NM_000492.4:c.1021T>C