ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825065201
Gene: GAA
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV001364120
ClinVar Variation:
1055449
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000143.2:p.Gly228Asp
CA401362586
NM_000152.5:c.683G>A