Canonical Allele Identifier: PA116614
Gene: GAA HGNC NCBI

Linked Data

ClinVar Variation Id: 4030
ClinVar RCV Id: RCV000004245 RCV000078165 RCV000383641 RCV000675237 RCV002415397
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000143.2:p.Glu689Lys
CA116612
NM_000152.5:c.2065G>A