ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA221395
Gene: GBA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
4295
ClinVar RCV Id:
RCV000004528
RCV000004529
RCV000004530
RCV000004531
RCV000020151
RCV000079343
RCV000762852
RCV001004110
RCV004018558
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001005741.1:p.Arg502Cys
CA221394
NM_001005741.2:c.1504C>T