ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645478692
Gene: AQP4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
252591
ClinVar RCV Id:
RCV000239267
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001641.1:p.Val319Ile
CA8922489
NM_001650.7:c.955G>A