ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA891845859
Gene: GAMT
HGNC
NCBI
Linked Data
ClinVar Variation Id:
577478
ClinVar RCV Id:
RCV000700249
RCV001835926
RCV002360795
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000147.1:p.Arg208His
CA9043553
NM_000156.6:c.623G>A