Canonical Allele Identifier: PA2827291760
Gene: SCN8A HGNC NCBI

Linked Data

ClinVar Variation Id: 192317
ClinVar RCV Id: RCV000172909 RCV001003602 RCV003992211
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001317189.1:p.Asn984Lys
CA10575719
NM_001330260.2:c.2952C>G
CA384891868
NM_001330260.2:c.2952C>A