ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825461188
Gene: GAA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3230470
ClinVar RCV Id:
RCV004520621
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001073271.1:p.Gln386Arg
CA401365065
NM_001079803.3:c.1157A>G