Canonical Allele Identifier: PA658801329
Gene: GAA HGNC NCBI

Linked Data

ClinVar Variation Id: 497591
ClinVar RCV Id: RCV000595586 RCV002530992
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000143.2:p.Met841Ile
CA401326063
NM_000152.5:c.2523G>A
CA401326065
NM_000152.5:c.2523G>C
CA401326066
NM_000152.5:c.2523G>T