ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA113548
Gene: GAA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
189124
ClinVar RCV Id:
RCV000169538
RCV000726790
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000143.2:p.Met519Thr
CA274402
NM_000152.5:c.1556T>C