ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2573215572
Gene: KCNQ2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1361264
ClinVar RCV Id:
RCV001874280
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001369164.1:p.Gly715Asp
CA409639016
NM_001382235.1:c.2144G>A