ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2829531938
Gene: KCNQ2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
432454
ClinVar RCV Id:
RCV000498425
RCV000815962
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004509.2:p.Arg739Trp
CA9958106
NM_004518.5:c.2215C>T