ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580116611
Gene: CFTR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1768143
ClinVar RCV Id:
RCV002376768
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000483.3:p.Ala326Ser
CA368978591
NM_000492.4:c.976G>T