ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825353647
Gene: SCN2A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
449164
ClinVar RCV Id:
RCV000520182
RCV004017661
RCV001257708
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001035232.1:p.Ala240Val
CA349017813
NM_001040142.2:c.719C>T