ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA181482
Gene: SCN5A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
67920
ClinVar RCV Id:
RCV000058701
RCV000154836
RCV001289206
RCV001842368
RCV004019052
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001092874.1:p.Arg1583Cys
CA018516
NM_001099404.2:c.4747C>T