ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2826089018
Gene: GBA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
4298
ClinVar RCV Id:
RCV000004537
RCV000498055
RCV001004127
RCV001705580
RCV001248860
RCV002476925
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001165283.1:p.Phe206Tyr
CA253065
NM_001171812.2:c.617T>A