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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:
PA102915
Gene: GNE
HGNC
NCBI
Linked Data
ClinVar Variation Id:
6027
ClinVar RCV Id:
RCV000006398
RCV001385135
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005467.1:p.Ala631Thr
CA253683
NM_005476.7:c.1891G>A