ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827778789
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
429575
ClinVar RCV Id:
RCV000492923
RCV001390613
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340884.1:p.Thr363Pro
CA349071283
NM_001353955.2:c.1087A>C