ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2826088964
Gene: GBA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
93455
ClinVar RCV Id:
RCV000179793
RCV000780284
RCV001004133
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001165283.1:p.Arg160Cys
CA221403
NM_001171812.2:c.478C>T