ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA307729
Gene: SCN5A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
67934
ClinVar RCV Id:
RCV000058718
RCV000183089
RCV000252940
RCV000779405
RCV001842372
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001092874.1:p.Arg1626His
CA018698
NM_001099404.2:c.4877G>A