Allele Registry

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: NPC1 HGNC NCBI

HGVS (amino-acid)	Transcript change
XP_005258335.1:p.Ala1204Gly	XM_005258278.5:c.[3609del;3611C>G;3613G>A... XM_005258278.5:c.[3609del;3611C>G;3613G>C... XM_005258278.5:c.[3609del;3611C>G;3613G=;... XM_005258278.5:c.[3609del;3611C>G;3613G>T... XM_005258278.5:c.[3609del;3611C>G;3614A>G... XM_005258278.5:c.3611C>G