×
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:
PA658664258
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
461244
ClinVar RCV Id:
RCV000536922
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_008851.3:p.Gly58_Leu61del
CA658657102
NM_006920.6:c.172_183del