Canonical Allele Identifier: PA2828472713
Gene: SCN2A HGNC NCBI

Linked Data

ClinVar Variation Id: 1394159
ClinVar RCV Id: RCV001884726
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001358175.1:p.Thr1547Ser
CA349036346
NM_001371246.1:c.4639A>T
CA349036348
NM_001371246.1:c.4640C>G