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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:
PA2580420462
Gene: DARS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2161271
ClinVar RCV Id:
RCV003089408
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_060592.2:p.Arg179Cys
CA1250161
NM_018122.5:c.535C>T