ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA101367
Gene: GLUD1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000017506
ClinVar Variation:
16126
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005262.1:p.Glu349Ala
CA257428
NM_005271.5:c.1046A>C