Canonical Allele Identifier: PA645481917
Gene: GAA HGNC NCBI

Linked Data

ClinVar Variation Id: 281232
ClinVar RCV Id: RCV000265982 RCV000382817 RCV000675239 RCV000852733 RCV002429212
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000143.2:p.Val718Ile
CA8815626
NM_000152.5:c.2152G>A