ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2826088624
Gene: GBA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
198757
ClinVar RCV Id:
RCV000180196
RCV001248862
RCV002500517
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001165282.1:p.Ile212Thr
CA275428
NM_001171811.2:c.635T>C