ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825068329
Gene: GAMT
HGNC
NCBI
Linked Data
ClinVar Variation Id:
835475
ClinVar RCV Id:
RCV001036364
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000147.1:p.Ala57Val
CA402998001
NM_000156.6:c.170C>T