Canonical Allele Identifier: PA2825065040
Gene: GAA HGNC NCBI

Linked Data

ClinVar Variation Id: 1003172
ClinVar RCV Id: RCV001299694
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000143.2:p.Ser142Arg
CA8814871
NM_000152.5:c.426C>A
CA401361247
NM_000152.5:c.424A>C
CA401361267
NM_000152.5:c.426C>G