ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827763507
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
68502
ClinVar RCV Id:
RCV000059374
RCV000180936
RCV000188861
RCV001226020
RCV001775078
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340879.1:p.Arg377Gln
CA266086
NM_001353950.2:c.1130G>A