ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA327457
Gene: CFTR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
53923
ClinVar RCV Id:
RCV000576918
RCV000781273
RCV002504943
RCV001811330
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000483.3:p.Glu1409Lys
CA327456
NM_000492.4:c.4225G>A