ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA097493
Gene: G6PC3
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_612396.1:p.Leu185Pro
NM_138387.4:c.554T>C