Canonical Allele Identifier: PA2825065499
Gene: GAA HGNC NCBI

Linked Data

ClinVar Variation Id: 2051159
ClinVar RCV Id: RCV002922330

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000143.2:p.Pro364Leu
CA8815166
NM_000152.5:c.1091C>T