Canonical Allele Identifier: PA2499303256
Gene: SCN5A HGNC NCBI

Linked Data

ClinVar Variation Id: 998587
ClinVar RCV Id: RCV003770481

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_932173.1:p.Met1793Ile
CA352141245
NM_198056.3:c.5379G>A
CA352141246
NM_198056.3:c.5379G>C
CA352141247
NM_198056.3:c.5379G>T