Canonical Allele Identifier: PA2825463529
Gene: GAA HGNC NCBI

Linked Data

ClinVar Variation Id: 456416
ClinVar RCV Id: RCV000559302

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001073271.1:p.Phe926Leu
CA401327325
NM_001079803.3:c.2776T>C
CA401327345
NM_001079803.3:c.2778C>A
CA401327347
NM_001079803.3:c.2778C>G