ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2829530527
Gene: KCNQ2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
422344
ClinVar RCV:
RCV000494098
RCV000585874
RCV002527074
RCV003315347
RCV003444106
ClinVar Variation:
429212
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004509.2:p.Ile278Thr
CA409652725
NM_004518.5:c.833T>C