ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645482183
Gene: GAMT
HGNC
NCBI
Linked Data
ClinVar Variation Id:
426381
ClinVar RCV Id:
RCV000489257
RCV001856897
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000147.1:p.Leu99Phe
CA402996261
NM_000156.6:c.295C>T