ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827024572
Gene: GLUD1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
650460
ClinVar RCV Id:
RCV000805619
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305833.1:p.Pro227Leu
CA5587506
NM_001318904.2:c.680C>T