ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645481593
Gene: GAA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
290299
ClinVar RCV Id:
RCV000403545
RCV000533465
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000143.2:p.Leu138Val
CA8814868
NM_000152.5:c.412C>G