ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA314841
Gene: GAMT
HGNC
NCBI
Linked Data
ClinVar Variation Id:
205598
ClinVar RCV Id:
RCV000187583
RCV000815633
RCV001127428
RCV002317101
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000147.1:p.Pro8Thr
CA314840
NM_000156.6:c.22C>A