ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658803806
Gene: CFTR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
526023
ClinVar RCV Id:
RCV000630462
RCV001834988
RCV003736863
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000483.3:p.Ile502Val
CA4451013
NM_000492.4:c.1504A>G