ClinGen Allele Registry
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Canonical Allele Identifier:
PA327218
Gene: CFTR
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000506019
RCV000670642
RCV001811327
RCV002281554
RCV003474582
ClinVar Variation:
53762
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000483.3:p.Arg117Gly
CA327217
NM_000492.4:c.349C>G