ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830344722
Gene: KCNQ2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
369770
ClinVar RCV Id:
RCV000416958
RCV000678149
RCV001037300
RCV001702362
RCV003225064
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_742104.1:p.Gly301Ser
CA10654809
NM_172106.3:c.901G>A