ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA097376
Gene: KCNQ4
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
-0.0233
Score
0.4884
Score
-4.8021
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000006621
RCV001195307
RCV002512842
ClinVar Variation:
6243
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004691.2:p.Gly321Ser
CA340534
NM_004700.4:c.961G>A