ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827780112
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
488378
ClinVar RCV Id:
RCV000578191
RCV003588648
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340884.1:p.Ile1335Asn
CA349050737
NM_001353955.2:c.4004T>A