Canonical Allele Identifier: PA2825065401
Gene: GAA HGNC NCBI

Linked Data

ClinVar Variation Id: 1381370
ClinVar RCV Id: RCV001895322
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000143.2:p.Met318Ile
CA401364280
NM_000152.5:c.954G>A
CA401364282
NM_000152.5:c.954G>T
CA401364284
NM_000152.5:c.954G>C