ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA094174
Gene: CFTR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
7120
ClinVar RCV Id:
RCV000007540
RCV000119040
RCV000211289
RCV000301838
RCV000763574
RCV001004467
RCV001831524
RCV003473009
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000483.3:p.Gly551Asp
CA340634
NM_000492.4:c.1652G>A