ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829512326
Gene: AQP4
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004019.1:p.Ala193Thr
CA8922572
NM_004028.5:c.577G>A