ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827789669
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
93656
ClinVar RCV Id:
RCV000079588
RCV001823112
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340889.1:p.Met1685Thr
CA266846
NM_001353960.2:c.5054T>C