ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139747075
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_620279.1:p.Ala57Val
CA402998001
NM_138924.3:c.170C>T