ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA097393
Gene: KCNQ4
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
4.7
Score
-0.0091
Score
0.5539
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000006624
RCV001567939
ClinVar Variation:
6246
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004691.2:p.Leu281Ser
CA340537
NM_004700.4:c.842T>C