ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827777274
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1069950
ClinVar RCV Id:
RCV001381948
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340883.1:p.Val1416Asp
CA349049864
NM_001353954.2:c.4247T>A