Canonical Allele Identifier: PA113056
Gene: GAA HGNC NCBI

Linked Data

ClinVar Variation Id: 4029
ClinVar RCV Id: RCV000004244 RCV000055768 RCV001785448 RCV004018551
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000143.2:p.Asp645Glu
CA116610
NM_000152.5:c.1935C>A
CA401369909
NM_000152.5:c.1935C>G