Canonical Allele Identifier: PA645481756
Gene: GAA HGNC NCBI

Linked Data

ClinVar Variation Id: 283455
ClinVar RCV Id: RCV000304646 RCV001855124
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000143.2:p.Phe414Leu
CA10604498
NM_000152.5:c.1240T>C
CA401365256
NM_000152.5:c.1242C>A
CA401365257
NM_000152.5:c.1242C>G