ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825065572
Gene: GAA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1487632
ClinVar RCV Id:
RCV002008714
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000143.2:p.His395Leu
CA8815193
NM_000152.5:c.1184A>T