ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2826089291
Gene: GBA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2582864
ClinVar RCV Id:
RCV003334107
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001165283.1:p.Lys431del
CA2573914545
NM_001171812.2:c.1293_1295del