Canonical Allele Identifier: PA2826260062
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 12902
ClinVar RCV Id: RCV000013765 RCV001857344 RCV001090363 RCV003992154
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001189364.1:p.Phe1499Leu
CA256620
NM_001202435.3:c.4495T>C
CA349048844
NM_001202435.3:c.4497T>G
CA349048846
NM_001202435.3:c.4497T>A