ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827759566
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
190028
ClinVar RCV Id:
RCV000180984
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340878.1:p.Tyr1263Ser
CA303594
NM_001353949.2:c.3788A>C