ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA1139671647
Gene: GAA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
972747
ClinVar RCV Id:
RCV001248866
RCV001876297
RCV003142223
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001073272.1:p.Arg594His
CA8815477
NM_001079804.3:c.1781G>A