Canonical Allele Identifier: PA2830433751
Gene: SCN5A HGNC NCBI

Linked Data

ClinVar Variation Id: 1377908
ClinVar RCV Id: RCV003657374
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_932173.1:p.Val2016_Ter2017insLeuAlaSerAlaTrpLeuAlaArgThrHis
CA352138958
NM_198056.3:c.6050G>T