Canonical Allele Identifier: PA2825461888
Gene: GAA HGNC NCBI
ClinVar RCV:
RCV000674934
ClinVar Variation:
558634
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001073271.1:p.Ile557Phe
CA401368911
NM_001079803.3:c.1669A>T