ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA093289
Gene: SCN4A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
5906
ClinVar RCV Id:
RCV000006269
RCV000497702
RCV003505082
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000325.4:p.Ile1160Val
CA117843
NM_000334.4:c.3478A>G