ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA107988
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_001159435.1:p.Met145Thr
CA256617
NM_001165963.4:c.434T>C