ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827750276
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
189872
ClinVar RCV Id:
RCV000180825
RCV003326125
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340877.1:p.Pro358Ser
CA303166
NM_001353948.2:c.1072C>T