ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2826969784
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_001304313.1:p.Val319Ile
CA8922489
NM_001317384.3:c.955G>A