Canonical Allele Identifier: PA143152
Gene: SCN5A HGNC NCBI

Linked Data

ClinVar Variation Id: 48315
ClinVar RCV Id: RCV000041636 RCV000058821 RCV000171818 RCV000202785 RCV000251940 RCV000852960 RCV000678922 RCV001145574 RCV001145575 RCV001145687 RCV001145688 RCV001145689 RCV001841618
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000326.2:p.Phe2003Leu
CA019578
NM_000335.5:c.6007T>C
CA065185
NM_000335.5:c.6009C>G
CA352139097
NM_000335.5:c.6009C>A