ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA327269
Gene: CFTR
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000668850
RCV001811328
RCV002281555
RCV003474588
ClinVar Variation:
53799
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000483.3:p.Thr1246Ile
CA327268
NM_000492.4:c.3737C>T