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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:
PA2827548459
Gene: RARS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
215067
ClinVar RCV Id:
RCV000195702
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001337439.1:p.Tyr270Cys
CA320065
NM_001350510.2:c.809A>G