ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580536144
Gene: KCNQ4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2286445
ClinVar RCV Id:
RCV002845433
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_751895.1:p.Leu48Gln
CA339885145
NM_172163.3:c.143T>A