ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA094236
Gene: GBA1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000148.2:p.Glu365Lys
CA028579
NM_000157.4:c.[1093G>A;535G>C]
CA275447
NM_000157.4:c.1093G>A