ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA645421944
Gene: KCNQ2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
420930
ClinVar RCV Id:
RCV000485621
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_742105.1:p.Asp212Val
CA16620975
NM_172107.3:c.635A>T