ClinGen Allele Registry
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Canonical Allele Identifier:
PA2579964771
Gene: KCNQ4
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
11.0421
Score
0.7078
Score
-0.0195
Linked Data - NCBI & NCI
ClinVar RCV:
RCV001730850
ClinVar Variation:
1185583
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004691.2:p.His234Leu
CA339894852
NM_004700.4:c.701A>T