ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827784308
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
68528
ClinVar RCV Id:
RCV000059400
RCV000188829
RCV000550639
RCV001197275
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340887.1:p.Arg101Gln
CA273119
NM_001353958.2:c.302G>A