ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA314835
Gene: GAMT
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000187580
RCV000814698
RCV001833117
ClinVar Variation:
205595
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000147.1:p.Thr230Met
CA314834
NM_000156.6:c.689C>T