ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2826011858
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
68500
ClinVar RCV Id:
RCV000059372
RCV000997285
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001159436.1:p.Pro358Thr
CA284856
NM_001165964.3:c.1072C>A