ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829530630
Gene: KCNQ2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000187883
RCV000203604
RCV000417034
RCV000473067
RCV001265545
RCV002281568
RCV003315318
ClinVar Variation:
205886
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004509.2:p.Ala294Val
CA278571
NM_004518.5:c.881C>T