ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA303097
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
189845
ClinVar RCV Id:
RCV000180799
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_008851.3:p.Pro1657Arg
CA303095
NM_006920.6:c.4970C>G