ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA314831
Gene: GAMT
HGNC
NCBI
Linked Data
ClinVar Variation Id:
205593
ClinVar RCV Id:
RCV000529306
RCV000732178
RCV001123245
RCV002362982
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000147.1:p.Ala224Thr
CA314830
NM_000156.6:c.670G>A