ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA347352
Gene: KCNQ4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
208367
ClinVar RCV Id:
RCV000655878
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004691.2:p.Tyr270His
CA347351
NM_004700.4:c.808T>C