Canonical Allele Identifier: PA2573314048
Gene: SCN5A HGNC NCBI

Linked Data

ClinVar Variation Id: 1368775
ClinVar RCV Id: RCV003772584
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_932173.1:p.Phe1594Leu
CA72942416
NM_198056.3:c.4780T>C
CA352143629
NM_198056.3:c.4782C>G
CA352143630
NM_198056.3:c.4782C>A