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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:
PA2826181114
Gene: TERT
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1427113
ClinVar RCV Id:
RCV002560544
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001180305.1:p.Arg37Gly
CA359059300
NM_001193376.3:c.109C>G