ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645481572
Gene: GAA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
286481
ClinVar RCV Id:
RCV000380809
RCV000631065
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000143.2:p.Arg106His
CA8814849
NM_000152.5:c.317G>A