ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825277491
Gene: GBA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1691424
ClinVar RCV Id:
RCV002254497
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001005741.1:p.Leu105Pro
CA342726566
NM_001005741.2:c.314T>C