ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827024300
Gene: GLUD1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305829.1:p.Ser365Leu
CA257424
NM_001318900.1:c.1094C>T