ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA120360
Gene: SCN5A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
24433
ClinVar RCV:
RCV000009994
RCV000058612
RCV001841240
ClinVar Variation:
9394
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000326.2:p.Pro1297Leu
CA017599
NM_000335.5:c.3890C>T