ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827767535
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
68641
ClinVar RCV Id:
RCV000059520
RCV003233101
RCV003588572
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340879.1:p.Arg1637Cys
CA285189
NM_001353950.2:c.4909C>T