Allele Registry

Canonical Allele Identifier: PA303497

Gene: SCN1A HGNC NCBI

ClinVar Allele:

187753

421307

ClinVar RCV:

RCV000180947

RCV000493892

ClinVar Variation:

189991

429551

HGVS (amino-acid)	Matching Registered Transcripts
NP_008851.3:p.Met1337Ile	CA303495 NM_006920.6:c.4011G>A CA59769826 NM_006920.6:c.4011G>C CA349050717 NM_006920.6:c.4011G>T