ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA1139740608
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
849526
ClinVar RCV Id:
RCV001053513
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340877.1:p.Leu1930Pro
CA349063858
NM_001353948.2:c.5789T>C