ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827775923
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
189920
ClinVar RCV Id:
RCV000180872
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340883.1:p.Val422Ala
CA303306
NM_001353954.2:c.1265T>C