×
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:
PA2827771891
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2010295
ClinVar RCV Id:
RCV002850993
RCV003326639
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340880.1:p.Ser1749Pro
CA349068302
NM_001353951.2:c.5245T>C