ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830344818
Gene: KCNQ2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000187895
RCV000517065
RCV000694219
RCV003223393
ClinVar Variation:
205898
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_742104.1:p.Arg353Cys
CA315430
NM_172106.3:c.1057C>T