ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA3073457346
Gene: AQP1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_932766.1:p.Pro38Gln
CA367147565
NM_198098.4:c.113C>A