ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658676457
Gene: GAMT
HGNC
NCBI
Linked Data
ClinVar Variation Id:
449690
ClinVar RCV Id:
RCV000519993
RCV001764518
RCV003302757
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000147.1:p.Gln106Pro
CA9043739
NM_000156.6:c.317A>C