ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827764312
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2159359
ClinVar RCV Id:
RCV003072774
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340879.1:p.Pro660Thr
CA349067168
NM_001353950.2:c.1978C>A