ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827924093
Gene: SCN5A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
68013
ClinVar RCV Id:
RCV000058809
RCV001545225
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341630.1:p.Ala1930Ser
CA019500
NM_001354701.2:c.5788G>T