ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827788563
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
429403
ClinVar RCV Id:
RCV000493354
RCV001132320
RCV001132321
RCV001227551
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340889.1:p.Val987Met
CA59787454
NM_001353960.2:c.2959G>A