ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580510342
Gene: GAMT
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2446455
ClinVar RCV Id:
RCV003159289
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_620279.1:p.Ala57Asp
CA402998003
NM_138924.3:c.170C>A