ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645481590
Gene: GAA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
325777
ClinVar RCV Id:
RCV000339288
RCV003144211
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000143.2:p.Ser132Thr
CA8814864
NM_000152.5:c.395G>C