ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA116595
Gene: GAA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
4022
ClinVar RCV Id:
RCV000004237
RCV000169465
RCV003137489
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001073271.1:p.Glu521Lys
CA116593
NM_001079803.3:c.1561G>A