Canonical Allele Identifier: PA2573176632
Gene: GAA HGNC NCBI

Linked Data

ClinVar Variation Id: 1496487
ClinVar RCV Id: RCV002019215
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001073272.1:p.Met391Ile
CA401365099
NM_001079804.3:c.1173G>A
CA401365100
NM_001079804.3:c.1173G>C
CA401365101
NM_001079804.3:c.1173G>T