Canonical Allele Identifier: PA2825461748
Gene: GAA HGNC NCBI

Linked Data

ClinVar Variation Id: 429690
ClinVar RCV Id: RCV001785637 RCV000756197 RCV003302728
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001073271.1:p.Phe512Leu
CA8815360
NM_001079803.3:c.1536C>A
CA401367125
NM_001079803.3:c.1534T>C
CA401367130
NM_001079803.3:c.1536C>G