ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA658664285
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
461284
ClinVar RCV Id:
RCV000557448
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_008851.3:p.Asp194Tyr
CA349075328
NM_006920.6:c.580G>T