ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829529641
Gene: KCNQ2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1704657
ClinVar RCV Id:
RCV002282984
RCV003753227
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004509.2:p.Phe137Val
CA409655553
NM_004518.5:c.409T>G