ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828134607
Gene: AQP4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
446492
ClinVar RCV Id:
RCV000515759
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001351216.1:p.Ser89Thr
CA402099366
NM_001364287.1:c.266G>C