ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825068837
Gene: GBA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
496080
ClinVar RCV Id:
RCV000587644
RCV002497235
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000148.2:p.Trp351Ser
CA342717600
NM_000157.4:c.1052G>C