ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA093632
Gene: GAMT
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000008802
RCV001762039
ClinVar Variation:
8304
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000147.1:p.Cys169Tyr
CA254379
NM_000156.6:c.506G>A