ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2830346520
Gene: KCNQ2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
444570
ClinVar RCV Id:
RCV000513589
RCV001060412
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_742106.1:p.Ala178Thr
CA409654937
NM_172108.3:c.532G>A