ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA284936
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
68535
ClinVar RCV Id:
RCV000059408
RCV001202491
RCV003352765
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_008851.3:p.Val1324Met
CA284934
NM_006920.6:c.3970G>A