ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2826088775
Gene: GBA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
496800
ClinVar RCV Id:
RCV000592466
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001165282.1:p.Phe363Ile
CA342712792
NM_001171811.2:c.1087T>A