ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA916062199
Gene: KCNQ2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
639127
ClinVar RCV Id:
RCV000791856
RCV001563651
RCV003432766
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_742105.1:p.Ile643Leu
CA409639444
NM_172107.3:c.1927A>C