×
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:
PA2827781001
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
954734
ClinVar RCV Id:
RCV001227247
RCV002249814
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340884.1:p.Asn1833Thr
CA349065570
NM_001353955.2:c.5498A>C