ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827752917
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
190013
ClinVar RCV Id:
RCV000180969
RCV000442784
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340877.1:p.Ala1273Val
CA303550
NM_001353948.2:c.3818C>T