ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2826088948
Gene: GBA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2612233
ClinVar RCV Id:
RCV004351992
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001165283.1:p.Pro140Gln
CA342723760
NM_001171812.2:c.419C>A