ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825943782
Gene: SCN5A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
571359
ClinVar RCV Id:
RCV003655192
RCV003999582
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001153633.1:p.His557Tyr
CA058468
NM_001160161.2:c.1669C>T