ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828134615
Gene: AQP4
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001351216.1:p.Ala193Thr
CA8922572
NM_001364287.1:c.577G>A