ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825463145
Gene: GAA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1693550
ClinVar RCV Id:
RCV002260943
RCV003491062
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001073271.1:p.Arg819Pro
CA401325305
NM_001079803.3:c.2456G>C