Canonical Allele Identifier: PA2825065294
Gene: GAA HGNC NCBI

Linked Data

ClinVar Variation Id: 1693710
ClinVar RCV Id: RCV002261579 RCV003095878
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000143.2:p.Ser265Arg
CA8815020
NM_000152.5:c.795T>A
CA401363487
NM_000152.5:c.793A>C
CA401363492
NM_000152.5:c.795T>G