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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:
PA2827042062
Gene: UBA5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
265752
ClinVar RCV Id:
RCV000255234
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001307139.1:p.Val204Met
CA10588809
NM_001320210.2:c.610G>A