ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499237153
Gene: GAA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1042005
ClinVar RCV Id:
RCV001345895
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001073272.1:p.Glu389Lys
CA8815188
NM_001079804.3:c.1165G>A