ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826956838
Gene: GNPAT
HGNC
NCBI
Linked Data
ClinVar Variation Id:
296136
ClinVar RCV Id:
RCV001001730
RCV000960456
RCV002520463
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001303279.1:p.Ala570Val
CA1452160
NM_001316350.2:c.1709C>T