ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA330244
Gene: SCN5A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
67987
ClinVar RCV Id:
RCV000058774
RCV003542281
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001092874.1:p.Leu1786Gln
CA019153
NM_001099404.2:c.5357T>A