ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658678673
Gene: GAA
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000549391
ClinVar Variation:
456427
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000143.2:p.Gly228Ser
CA8814961
NM_000152.5:c.682G>A