ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA260232
Gene: CFTR
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000029514
RCV001241203
RCV001811200
RCV001835638
RCV002482910
ClinVar Variation:
35859
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000483.3:p.Pro1013His
CA260231
NM_000492.4:c.3038C>A