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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:
PA2827547950
Gene: RARS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2184156
ClinVar RCV Id:
RCV002627942
RCV003250792
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001337437.1:p.Arg276His
CA3916310
NM_001350508.1:c.827G>A