ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499232875
Gene: CFTR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1029874
ClinVar RCV Id:
RCV001331275
RCV001800983
RCV002261343
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000483.3:p.Leu130Pro
CA368974588
NM_000492.4:c.389T>C