ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825460635
Gene: GAA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
283894
ClinVar RCV Id:
RCV000319725
RCV000535428
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001073271.1:p.Arg281Trp
CA8815025
NM_001079803.3:c.841C>T