ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658817482
Gene: G6PC1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
522204
ClinVar RCV Id:
RCV000624988
RCV001701123
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001257326.1:p.Thr144Met
CA8587596
NM_001270397.2:c.431C>T