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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:
PA2827774816
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1745814
ClinVar RCV Id:
RCV002338406
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340881.1:p.Gly1714_Trp1715del
CA2580064420
NM_001353952.2:c.5141_5146del