Canonical Allele Identifier: PA2825494113
Gene: SCN5A HGNC NCBI

Linked Data

ClinVar Variation Id: 940010
ClinVar RCV Id: RCV003656500
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001092875.1:p.Gln692His
CA352144830
NM_001099405.2:c.2076G>T
CA352144831
NM_001099405.2:c.2076G>C