Canonical Allele Identifier: PA2825462168
Gene: GAA HGNC NCBI

Linked Data

ClinVar Variation Id: 167113
ClinVar RCV Id: RCV000591376 RCV000723464
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001073271.1:p.Thr614Lys
CA234050
NM_001079803.3:c.1841C>A