ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499237180
Gene: GAA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1199276
ClinVar RCV Id:
RCV001563757
RCV002267116
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001073272.1:p.Thr182Met
CA8814894
NM_001079804.3:c.545C>T