Canonical Allele Identifier: PA645481749
Gene: GAA HGNC NCBI

Linked Data

ClinVar Variation Id: 290186
ClinVar RCV Id: RCV000295782 RCV000794399
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000143.2:p.Phe396Leu
CA8815195
NM_000152.5:c.1188C>G
CA401365127
NM_000152.5:c.1186T>C
CA401365132
NM_000152.5:c.1188C>A