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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:
PA2830389344
Gene: PAX3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1195199
ClinVar RCV Id:
RCV001558191
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_852124.1:p.Val78Glu
CA351113533
NM_181459.4:c.233T>A