ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829530677
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_004509.2:p.Pro308Leu
CA409652439
NM_004518.5:c.923C>T