ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA658678807
Gene: GAA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
449460
ClinVar RCV Id:
RCV000519755
RCV001834682
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000143.2:p.Pro522Thr
CA401367208
NM_000152.5:c.1564C>A