Canonical Allele Identifier: PA2499237183
Gene: GAA HGNC NCBI

Linked Data

ClinVar Variation Id: 1025310
ClinVar RCV Id: RCV001325613 RCV001773650
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001073272.1:p.Phe241Leu
CA401363131
NM_001079804.3:c.721T>C
CA401363147
NM_001079804.3:c.723T>A
CA401363149
NM_001079804.3:c.723T>G