ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA347372
Gene: KCNQ4
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
6.8607
Score
-0.0261
Score
0.2004
Linked Data - NCBI & NCI
ClinVar Allele:
204594
ClinVar RCV:
RCV000655877
ClinVar Variation:
208365
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004691.2:p.Val230Glu
CA347371
NM_004700.4:c.689T>A