ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827923110
Gene: SCN5A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
947395
ClinVar RCV Id:
RCV001218463
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341630.1:p.Pro1309Ser
CA352148124
NM_001354701.2:c.3925C>T