ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA097342
Gene: KCNQ4
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
-0.0074
Score
0.7226
Score
0.3127
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000006622
RCV001851702
ClinVar Variation:
6244
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004691.2:p.Gly285Cys
CA340535
NM_004700.4:c.853G>T