ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916071319
Gene: GAMT
HGNC
NCBI
Linked Data
ClinVar Variation Id:
544257
ClinVar RCV Id:
RCV000655363
RCV001253217
RCV001566324
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_620279.1:p.Thr136Met
CA9043669
NM_138924.3:c.407C>T