ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA658678601
Gene: GAA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
456412
ClinVar RCV Id:
RCV000553278
RCV001557806
RCV001821499
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000143.2:p.Arg89Cys
CA8814832
NM_000152.5:c.265C>T