ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA094399
Gene: CFTR
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000056377
RCV001004303
RCV001508221
RCV001826661
RCV003474572
ClinVar Variation:
53690
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000483.3:p.Leu1077Pro
CA328111
NM_000492.4:c.3230T>C