ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA108389
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
12894
ClinVar RCV Id:
RCV001296128
RCV000013754
RCV000013755
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001159435.1:p.Thr1709Ile
CA256611
NM_001165963.4:c.5126C>T