×
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:
PA2827775193
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
971809
ClinVar RCV Id:
RCV001247682
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340881.1:p.Glu1946Gln
CA349063410
NM_001353952.2:c.5836G>C