ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827772195
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3158517
ClinVar RCV Id:
RCV004454891
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340880.1:p.Gly1938Ser
CA349063549
NM_001353951.2:c.5812G>A