ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658801462
Gene: GAMT
HGNC
NCBI
Linked Data
ClinVar Variation Id:
544252
ClinVar RCV Id:
RCV000655357
RCV002305524
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000147.1:p.Thr234Ile
CA402990219
NM_000156.6:c.701C>T