ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915961187
Gene: GAMT
HGNC
NCBI
Linked Data
ClinVar Variation Id:
445930
ClinVar RCV Id:
RCV000514004
RCV001272267
RCV001296499
ClinVar Variation Id:
1394775
ClinVar RCV Id:
RCV001927470
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000147.1:p.Tyr223Ter
CA9043535
NM_000156.6:c.668dup