ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA092007
Gene: AQP2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000019423
ClinVar Variation:
17845
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000477.1:p.Ala190Thr
CA127492
NM_000486.5:c.568G>A