ClinGen Allele Registry
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Canonical Allele Identifier:
PA2579964622
Gene: KCNQ4
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
2.814
Score
0.8261
Linked Data - NCBI & NCI
ClinVar RCV:
RCV001754623
ClinVar Variation:
1308735
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004691.2:p.Asp262Gly
CA339895577
NM_004700.4:c.785A>G