ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA094236
Gene: GBA1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
38432
ClinVar RCV:
RCV000252989
RCV000414984
RCV000415149
RCV000415387
RCV000487503
RCV001248923
RCV001509572
RCV001836745
ClinVar Variation:
199044
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