ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA097258
Gene: AQP5
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001642.1:p.Ile45Ser
CA144809
NM_001651.4:c.134T>G