ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573300065
Gene: GAMT
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1524952
ClinVar RCV Id:
RCV002032095
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_620279.1:p.His51Leu
CA402998051
NM_138924.3:c.152A>T