ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825277715
Gene: GBA1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
265209
ClinVar RCV:
RCV000321615
RCV001249028
ClinVar Variation:
280972
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001005742.1:p.Tyr174Cys
CA1141727
NM_001005742.2:c.521A>G