Canonical Allele Identifier: PA645481967
Gene: GAA HGNC NCBI

Linked Data

ClinVar Variation Id: 252467
ClinVar RCV Id: RCV000238987 RCV000542072 RCV000725668 RCV004020975
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000143.2:p.Thr806Met
CA8815734
NM_000152.5:c.2417C>T