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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:
PA2828748882
Gene: WARS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
521796
ClinVar RCV Id:
RCV001764739
RCV004547761
RCV000624139
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001365157.1:p.Arg195Cys
CA1035226
NM_001378228.1:c.583C>T