ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827024778
Gene: GLUD1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305835.1:p.Ser331Leu
CA257424
NM_001318906.2:c.992C>T