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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:
PA2827089320
Gene: UBA5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
265757
ClinVar RCV Id:
RCV000254733
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308168.1:p.Lys198Glu
CA10588812
NM_001321239.1:c.592A>G