ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827922026
Gene: SCN5A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
949946
ClinVar RCV Id:
RCV003541296
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341630.1:p.Val595Ala
CA352146173
NM_001354701.2:c.1784T>C