ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA314817
Gene: GAMT
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_000147.1:p.Glu176Ter
NM_000156.6:c.526G>T