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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:
PA101783
Gene: POLG
HGNC
NCBI
Linked Data
ClinVar Variation Id:
21313
ClinVar RCV Id:
RCV000513124
RCV000545884
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001119603.1:p.Arg1146Cys
CA292845
NM_001126131.2:c.3436C>T