Canonical Allele Identifier: PA086931
Gene: SCN5A HGNC NCBI

Linked Data

ClinVar Variation Id: 222806
ClinVar RCV Id: RCV000208085 RCV002399771
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001092875.1:p.His557Gln
CA058476
NM_001099405.2:c.1671C>G
CA352146807
NM_001099405.2:c.1671C>A