Canonical Allele Identifier: PA2825461711
Gene: GAA HGNC NCBI

Linked Data

ClinVar Variation Id: 1398860
ClinVar RCV Id: RCV001915280

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001073271.1:p.Phe490Leu
CA401366885
NM_001079803.3:c.1468T>C
CA401366895
NM_001079803.3:c.1470C>A
CA401366897
NM_001079803.3:c.1470C>G