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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:
PA2580140487
Gene: GLIS3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2218835
ClinVar RCV Id:
RCV002687456
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001035878.1:p.Thr570Met
CA4968117
NM_001042413.2:c.1709C>T