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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:
PA2741850042
Gene: G6PC1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2581673
ClinVar RCV Id:
RCV003330449
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001257326.1:p.Arg83Ser
CA399653149
NM_001270397.2:c.247C>A