ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825065022
Gene: GAA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2689095
ClinVar RCV Id:
RCV003487845
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000143.2:p.Pro130Arg
CA401361014
NM_000152.5:c.389C>G