ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825065091
Gene: GAA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1310553
ClinVar RCV Id:
RCV001767667
RCV001868487
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000143.2:p.Arg168Leu
CA8814883
NM_000152.5:c.503G>T