Canonical Allele Identifier: PA2825066342
Gene: GAA HGNC NCBI

Linked Data

ClinVar Variation Id: 3230473
ClinVar RCV Id: RCV004520624
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000143.2:p.Leu756Pro
CA401324827
NM_000152.5:c.2267T>C