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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:
PA2825622551
Gene: POLG
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2908349
ClinVar RCV Id:
RCV003627395
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001119603.1:p.Tyr1147Cys
CA393749727
NM_001126131.2:c.3440A>G