ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825462927
Gene: GAA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
325793
ClinVar RCV Id:
RCV000293486
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001073271.1:p.Thr777Met
CA8815689
NM_001079803.3:c.2330C>T