Canonical Allele Identifier: PA2825065538
Gene: GAA HGNC NCBI

Linked Data

ClinVar Variation Id: 800863
ClinVar RCV Id: RCV000985050
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000143.2:p.Tyr378_Ser379delinsGlyTyr
CA915952250
NM_000152.5:c.1132_1136delinsGGCTA