ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA097384
Gene: KCNQ4
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
-0.0162
Score
0.5916
Score
-1.2953
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000006625
ClinVar Variation:
6247
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004691.2:p.Leu274His
CA340538
NM_004700.4:c.821T>A