ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915964572
Gene: GAA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
657459
ClinVar RCV Id:
RCV000814062
RCV002259372
RCV003938174
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001073272.1:p.Arg411Gln
CA8815241
NM_001079804.3:c.1232G>A