Canonical Allele Identifier: PA2825462483
Gene: GAA HGNC NCBI

Linked Data

ClinVar Variation Id: 552162
ClinVar RCV Id: RCV000667381
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001073271.1:p.Tyr685_Pro690del
CA658824787
NM_001079803.3:c.2053_2070del