ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830345349
Gene: KCNQ2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1043541
ClinVar RCV Id:
RCV001347662
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_742104.1:p.Ser744dup
CA2374774344
NM_172106.3:c.2231_2233dup