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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
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