ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827779537
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
68600
ClinVar RCV Id:
RCV000059477
RCV001548630
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340884.1:p.His927Tyr
CA285087
NM_001353955.2:c.2779C>T