ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830344313
Gene: KCNQ2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000187850
RCV001070885
RCV003315312
ClinVar Variation:
205862
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_742104.1:p.Ser113Phe
CA315349
NM_172106.3:c.338C>T