ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830346850
Gene: KCNQ2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2572483
ClinVar RCV Id:
RCV003314368
RCV003588886
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_742106.1:p.Pro308Leu
CA409652439
NM_172108.3:c.923C>T