ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2829529778
Gene: KCNQ2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1326315
ClinVar RCV Id:
RCV001786537
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004509.2:p.Ala178Val
CA409654934
NM_004518.5:c.533C>T