Canonical Allele Identifier: PA658674448
Gene: GAA HGNC NCBI
ClinVar Allele:
ClinVar RCV:
ClinVar Variation:

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000143.2:p.Arg819Gln
CA8815747
NM_000152.5:c.2456G>A