ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.
Canonical Allele Identifier:
Get Identifier
Gene: ATP13A2
HGNC
NCBI
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
XP_005245867.1:p.Phe1050del
XM_005245810.1:c.3149_3151del
XM_005245810.1:c.[3149_3151del;3153T>A]
XM_005245810.1:c.[3149_3151del;3153T>C]
XM_005245810.1:c.[3149_3151del;3153T>G]
XM_005245810.1:c.[3149_3151del;3153T=]