ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827784049
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
206876
ClinVar RCV Id:
RCV000189015
RCV000986869
RCV001071764
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340886.1:p.Met1866Thr
CA317649
NM_001353957.2:c.5597T>C