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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:
PA2826550362
Gene: TK2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
38990
ClinVar RCV Id:
RCV000197645
RCV000615451
RCV000762977
RCV003904881
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001258979.1:p.Ala42Val
CA322107
NM_001272050.2:c.125C>T