ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2830344868
Gene: KCNQ2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
430416
ClinVar RCV Id:
RCV000493927
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_742104.1:p.Tyr379Phe
CA409650660
NM_172106.3:c.1136A>T