ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827923004
Gene: SCN5A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000058593
RCV000678843
RCV001256851
RCV001842345
RCV002504973
RCV003162458
ClinVar Variation:
67818
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341630.1:p.Glu1239Gln
CA017461
NM_001354701.2:c.3715G>C