ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830346935
Gene: KCNQ2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000478321
RCV000794694
ClinVar Variation:
422045
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_742106.1:p.Leu356Pro
CA16620968
NM_172108.3:c.1067T>C