ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830345241
Gene: KCNQ2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
205848
ClinVar RCV Id:
RCV000187836
RCV000460070
RCV002317108
RCV003430736
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_742104.1:p.Ile671Leu
CA315312
NM_172106.3:c.2011A>C