ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825495804
Gene: SCN5A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
647822
ClinVar RCV Id:
RCV002495081
RCV001841983
RCV003768502
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001092875.1:p.Arg1316Gln
CA062577
NM_001099405.2:c.3947G>A