Canonical Allele Identifier: PA645505685
Gene: SCN5A HGNC NCBI
ClinVar RCV:
RCV000481094
ClinVar Variation:
418616
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_932173.1:p.Tyr1447His
CA16617946
NM_198056.3:c.4339T>C