ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645481695
Gene: GAA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
289356
ClinVar RCV Id:
RCV000726314
RCV001039032
RCV002469100
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000143.2:p.Tyr340Cys
CA8815129
NM_000152.5:c.1019A>G