ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830345081
Gene: KCNQ2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000187915
RCV000462637
RCV000678188
RCV001003634
RCV001374917
RCV002514018
RCV003315322
ClinVar Variation:
205915
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_742104.1:p.Arg542Trp
CA315471
NM_172106.3:c.1624C>T