Canonical Allele Identifier: PA2825461239
Gene: GAA HGNC NCBI

Linked Data

ClinVar Variation Id: 456370
ClinVar RCV Id: RCV000535983 RCV001783029
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001073271.1:p.Pro397Leu
CA8815197
NM_001079803.3:c.1190C>T