ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA314809
Gene: GAMT
HGNC
NCBI
Linked Data
ClinVar Variation Id:
205582
ClinVar RCV Id:
RCV000711734
RCV001124347
RCV000807491
RCV002314717
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000147.1:p.Thr192Met
CA314808
NM_000156.6:c.575C>T