ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA113251
Gene: GAA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
497033
ClinVar RCV Id:
RCV000592368
RCV001249091
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000143.2:p.Gly377Arg
CA8815180
NM_000152.5:c.1129G>C