Canonical Allele Identifier: PA658678715
Gene: GAA HGNC NCBI

Linked Data

ClinVar Variation Id: 456444
ClinVar RCV Id: RCV000560890 RCV001584243 RCV002377004 RCV002252158
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000143.2:p.His308Tyr
CA8815089
NM_000152.5:c.922C>T