ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827773695
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
425226
ClinVar RCV Id:
RCV000487912
RCV001448434
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340881.1:p.Tyr1014Phe
CA1943013
NM_001353952.2:c.3041A>T