ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA093569
Gene: CFTR
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000007543
RCV000521321
RCV001004261
RCV001826429
RCV002476941
RCV003473010
ClinVar Variation:
7123
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000483.3:p.Ala559Thr
CA340637
NM_000492.4:c.1675G>A