ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA112322
Gene: G6PC1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
38300
ClinVar RCV Id:
RCV000020132
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000142.2:p.Arg83His
CA341566
NM_000151.4:c.248G>A