×
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
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827783807
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
189851
ClinVar RCV Id:
RCV000180805
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340886.1:p.Ser1722_Ser1723delinsArg
CA303110
NM_001353957.2:c.5166_5168del