ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825459629
Gene: GAA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1051704
ClinVar RCV Id:
RCV001359778
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001073271.1:p.Ser45Phe
CA401360317
NM_001079803.3:c.134C>T