ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2829530039
Gene: KCNQ2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2702661
ClinVar RCV Id:
RCV003589738
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004509.2:p.Val225Phe
CA409654673
NM_004518.5:c.673G>T