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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:
PA2573312285
Gene: TERT
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1475024
ClinVar RCV Id:
RCV002571358
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_937983.2:p.Thr443Lys
CA359086163
NM_198253.3:c.1328C>A