ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA094382
Gene: CFTR
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000007629
RCV000311326
RCV001004297
RCV001831550
ClinVar Variation:
7208
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000483.3:p.Leu1065Pro
CA325596
NM_000492.4:c.3194T>C