ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2826012062
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
418475
ClinVar RCV Id:
RCV000486171
RCV003766659
RCV003989533
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001159436.1:p.Arg500Trp
CA1943296
NM_001165964.3:c.1498C>T