ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA347372
Gene: KCNQ4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
208365
ClinVar RCV Id:
RCV000655877
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004691.2:p.Val230Glu
CA347371
NM_004700.4:c.689T>A