ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658659726
Gene: CFTR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
448901
ClinVar RCV Id:
RCV000518432
RCV002476048
RCV002367724
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000483.3:p.Leu214Val
CA4450791
NM_000492.4:c.640C>G