ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA093700
Gene: GAMT
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2570638
ClinVar RCV Id:
RCV003307397
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000147.1:p.Leu197Pro
CA402990982
NM_000156.6:c.590T>C