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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:
PA2573280076
Gene: AARS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1415125
ClinVar RCV Id:
RCV001920907
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_065796.2:p.Arg860His
CA3833931
NM_020745.4:c.2579G>A