ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA265557
Gene: SCN5A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
67880
ClinVar RCV Id:
RCV000058660
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000326.2:p.Pro1437Leu
CA018135
NM_000335.5:c.4310C>T