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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:
PA645376945
Gene: PAX3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
334557
ClinVar RCV Id:
RCV000262533
RCV000357449
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_852122.1:p.Tyr410Phe
CA10614494
NM_181457.4:c.1229A>T