ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA241287
Gene: GAA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
195018
ClinVar RCV Id:
RCV000175528
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000143.2:p.Asp91Ser
CA241285
NM_000152.5:c.271_272delinsAG