ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827762715
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
12896
ClinVar RCV Id:
RCV000013758
RCV000255880
RCV000993711
RCV003595856
RCV003992153
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340879.1:p.Met145Thr
CA256617
NM_001353950.2:c.434T>C