ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825497363
Gene: SCN5A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1035159
ClinVar RCV Id:
RCV001337993
RCV003591858
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001092875.1:p.Ala1864Val
CA352140486
NM_001099405.2:c.5591C>T