ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645489655
Gene: KCNQ4
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
-0.0415
Score
1.0533
Score
0.6272
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000486052
ClinVar Variation:
423333
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004691.2:p.His234Arg
CA16617142
NM_004700.4:c.701A>G