ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826969764
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_001304313.1:p.Ser111Thr
CA402099366
NM_001317384.3:c.332G>C