ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829530320
Gene: KCNQ2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2571144
ClinVar RCV Id:
RCV003312545
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004509.2:p.Gly256Trp
CA409653491
NM_004518.5:c.766G>T