ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830344416
Gene: KCNQ2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000489646
RCV001340746
ClinVar Variation:
427046
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_742104.1:p.Val182Met
CA409654914
NM_172106.3:c.544G>A