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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:
PA2826013039
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2627518
ClinVar RCV Id:
RCV003388781
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001159436.1:p.Phe1231Tyr
CA349054402
NM_001165964.3:c.3692T>A