ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658659942
Gene: CFTR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
455771
ClinVar RCV Id:
RCV000545926
RCV001194373
RCV001829533
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000483.3:p.Ser877Ala
CA4451251
NM_000492.4:c.2629T>G