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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:
PA2828939715
Gene: G6PC3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1040
ClinVar RCV Id:
RCV000001095
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001371097.1:p.Gly147Arg
CA280956
NM_001384168.1:c.439G>C