Canonical Allele Identifier: PA645481956
Gene: GAA HGNC NCBI

Linked Data

ClinVar Variation Id: 325791
ClinVar RCV Id: RCV000295389 RCV002429282 RCV003133223
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000143.2:p.Leu769Phe
CA8815683
NM_000152.5:c.2307G>C
CA401324906
NM_000152.5:c.2307G>T