ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA3086185768
Gene: GAMT
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000147.1:p.Val110Ile
CA402995906
NM_000156.6:c.328G>A