Canonical Allele Identifier: PA303556
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 190014
ClinVar RCV Id: RCV000180970
ClinVar Variation Id: 2734302
ClinVar RCV Id: RCV003588457
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_008851.3:p.Val1379Leu
CA303554
NM_006920.6:c.4135G>C
CA349050206
NM_006920.6:c.4135G>T