ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA093722
Gene: GAMT
HGNC
NCBI
Linked Data
ClinVar Variation Id:
8303
ClinVar RCV Id:
RCV000008801
RCV000799554
RCV000986201
RCV002251891
RCV002354153
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000147.1:p.Trp20Ser
CA340769
NM_000156.6:c.59G>C