ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828886938
Gene: KCNQ2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000187916
RCV000678189
RCV002517873
ClinVar Variation:
205916
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001369164.1:p.Pro543Leu
CA315474
NM_001382235.1:c.1628C>T