ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2830344613
Gene: KCNQ2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
197891
ClinVar RCV Id:
RCV000179032
RCV000187875
RCV000192955
RCV000555510
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_742104.1:p.Ala265Thr
CA278513
NM_172106.3:c.793G>A