ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA658809933
Gene: SCN5A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
519340
ClinVar RCV Id:
RCV000621306
RCV003698804
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_932173.1:p.Ile1853Val
CA352140852
NM_198056.3:c.5557A>G