ClinGen Allele Registry
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Canonical Allele Identifier:
PA175541
Gene: CFTR
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000046274
RCV000078976
RCV000150335
RCV001004444
RCV001009469
RCV002256030
RCV003473449
ClinVar Variation:
53229
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000483.3:p.Asp443Tyr
CA175540
NM_000492.4:c.1327G>T