ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825496778
Gene: SCN5A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2014946
ClinVar RCV Id:
RCV003658257
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001092875.1:p.Tyr1663Cys
CA352142627
NM_001099405.2:c.4988A>G