Canonical Allele Identifier: PA2825066504
Gene: GAA HGNC NCBI

Linked Data

ClinVar Variation Id: 1306657
ClinVar RCV Id: RCV001770837
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000143.2:p.Val867Leu
CA401326325
NM_000152.5:c.2599G>C
CA401326327
NM_000152.5:c.2599G>T