ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA347425
Gene: KCNQ4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
208366
ClinVar RCV Id:
RCV000484405
RCV000656422
RCV001089683
RCV000825943
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004691.2:p.Ser269del
CA347424
NM_004700.4:c.806_808del