ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829531966
Gene: KCNQ2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000815524
RCV001705016
RCV001847823
RCV002444762
ClinVar Variation:
205850
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004509.2:p.Pro749Ser
CA315318
NM_004518.5:c.2245C>T