ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA314847
Gene: GAMT
HGNC
NCBI
Linked Data
ClinVar Variation Id:
205601
ClinVar RCV Id:
RCV000187586
RCV001833119
RCV002517863
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000147.1:p.Met42Val
CA314846
NM_000156.6:c.124A>G