ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829530000
Gene: KCNQ2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
575133
ClinVar RCV:
RCV000700920
RCV003987673
ClinVar Variation:
578032
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004509.2:p.Arg214Gln
CA409654734
NM_004518.5:c.641G>A