ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA113073
Gene: GAA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
928929
ClinVar RCV Id:
RCV001193578
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000143.2:p.Cys103Arg
CA401360685
NM_000152.5:c.307T>C