ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580314965
Gene: KCNQ3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1697976
ClinVar RCV Id:
RCV002269399
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004510.1:p.Pro347Leu
CA372290048
NM_004519.4:c.1040C>T