ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827774782
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_001340881.1:p.Thr1698Ile
CA256611
NM_001353952.2:c.5093C>T