ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829530563
Gene: KCNQ2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000187881
RCV001377992
ClinVar Variation:
205884
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004509.2:p.Asp282Asn
CA315404
NM_004518.5:c.844G>A