ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826956667
Gene: GNPAT
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000969161
RCV001098552
RCV002529488
ClinVar Variation:
508512
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001303279.1:p.Arg149Gln
CA1451841
NM_001316350.2:c.446G>A