ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825462346
Gene: GAA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
188902
ClinVar RCV Id:
RCV000169262
RCV001781523
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001073271.1:p.Gly648Ser
CA274102
NM_001079803.3:c.1942G>A