ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA233701
Gene: CFTR
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000152997
RCV000586855
RCV000987964
RCV001163493
RCV002504942
RCV003474566
ClinVar Variation:
53638
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000483.3:p.Tyr1014Cys
CA233700
NM_000492.4:c.3041A>G