ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA221009
Gene: CFTR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
35825
ClinVar RCV Id:
RCV000046339
RCV000589201
RCV001163392
RCV000855641
RCV002247397
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000483.3:p.Val520Ile
CA221008
NM_000492.4:c.1558G>A