ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2499237195
Gene: GAA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1050856
ClinVar RCV Id:
RCV001358813
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001073272.1:p.Pro534Leu
CA294895032
NM_001079804.3:c.1601C>T