ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA913194156
Gene: CFTR
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000759033
RCV000803536
RCV001592944
RCV002233757
RCV003472280
ClinVar Variation:
619674
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000483.3:p.Phe575Tyr
CA4451072
NM_000492.4:c.1724T>A