ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827780995
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
189965
ClinVar RCV Id:
RCV000180919
RCV003480074
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340884.1:p.Leu1827Val
CA303429
NM_001353955.2:c.5479C>G