Canonical Allele Identifier: PA2827789141
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 2061575
ClinVar RCV Id: RCV002942835
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340889.1:p.Phe1386Leu
CA349049943
NM_001353960.2:c.4158T>G
CA349049944
NM_001353960.2:c.4158T>A
CA349049949
NM_001353960.2:c.4156T>C