ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825496747
Gene: SCN5A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
67949
ClinVar RCV Id:
RCV000058734
RCV000190217
RCV000523560
RCV001842375
RCV002336216
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001092875.1:p.Val1649Ile
CA018825
NM_001099405.2:c.4945G>A