Canonical Allele Identifier: PA915964879
Gene: GAA HGNC NCBI

Linked Data

ClinVar Variation Id: 392862
ClinVar RCV Id: RCV000439307 RCV000675111
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001073272.1:p.Trp772Cys
CA16607903
NM_001079804.3:c.2316G>T
CA401324924
NM_001079804.3:c.2316G>C