ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825068958
Gene: GBA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
236405
ClinVar RCV Id:
RCV000225638
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000148.2:p.Ile466Ser
CA10581617
NM_000157.4:c.1397T>G