ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA916036469
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
189858
ClinVar RCV Id:
RCV000180811
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340877.1:p.Met960Arg
CA303122
NM_001353948.2:c.2879T>G