ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827754063
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
546140
ClinVar RCV Id:
RCV000657975
RCV002536319
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340877.1:p.Ile1551Phe
CA349072227
NM_001353948.2:c.4651A>T