ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830344907
Gene: KCNQ2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
461403
ClinVar RCV Id:
RCV000530666
RCV000660441
RCV001311999
RCV003315352
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_742104.1:p.Pro410Leu
CA9958554
NM_172106.3:c.1229C>T