Canonical Allele Identifier: PA2573176741
Gene: GAA HGNC NCBI

Linked Data

ClinVar Variation Id: 1415612
ClinVar RCV Id: RCV001933170
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001073272.1:p.Met519Ile
CA401367190
NM_001079804.3:c.1557G>A
CA401367191
NM_001079804.3:c.1557G>C
CA401367192
NM_001079804.3:c.1557G>T