ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827788744
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1969094
ClinVar RCV Id:
RCV002755344
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340889.1:p.Pro1148del
CA2580064350
NM_001353960.2:c.3442_3444del