Canonical Allele Identifier: PA645481852
Gene: GAA HGNC NCBI

Linked Data

ClinVar Variation Id: 286469
ClinVar RCV Id: RCV000295145 RCV000702676 RCV004017586
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000143.2:p.Thr614Met
CA8815496
NM_000152.5:c.1841C>T