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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:
PA2829676557
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
859283
ClinVar RCV Id:
RCV001065356
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_008851.3:p.Phe1804Ser
CA349067529
NM_006920.6:c.5411T>C