ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825461373
Gene: GAA
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000346911
RCV000528796
RCV000852731
RCV001533532
RCV002379127
ClinVar Variation:
284497
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001073271.1:p.Gln429Arg
CA8815250
NM_001079803.3:c.1286A>G