ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA347367
Gene: KCNQ4
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
1.3326
Score
0.7844
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000655884
RCV002514082
ClinVar Variation:
208373
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004691.2:p.Ser680Phe
CA347366
NM_004700.4:c.2039C>T