ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA342058
Gene: KCNQ4
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
-0.0035
Score
0.7336
Score
-1.6129
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000655887
ClinVar Variation:
21427
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004691.2:p.Asp262Val
CA342057
NM_004700.4:c.785A>T