ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499270727
Gene: GLUD1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1072420
ClinVar RCV Id:
RCV001385122
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005262.1:p.Lys503Glu
CA377464666
NM_005271.5:c.1507A>G