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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:
PA2827785956
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1359116
ClinVar RCV Id:
RCV001864245
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340887.1:p.Val1264Leu
CA349053828
NM_001353958.2:c.3790G>C