ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829531850
Gene: KCNQ2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000529314
RCV001564307
RCV003338650
ClinVar Variation:
461414
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004509.2:p.Arg697Cys
CA9958136
NM_004518.5:c.2089C>T