ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829531788
Gene: KCNQ2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
961112
ClinVar RCV Id:
RCV001234749
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004509.2:p.Lys671del
CA9958154
NM_004518.5:c.2013_2015del