Canonical Allele Identifier: PA1139750786
Gene: KCNQ2 HGNC NCBI

Linked Data

ClinVar Variation Id: 211236
ClinVar RCV Id: RCV000194164 RCV000234792 RCV000414259 RCV000990332 RCV001002283 RCV000678098 RCV001381685 RCV001836639 RCV003315329
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_742107.1:p.Phe305del
CA208154
NM_172109.3:c.913_915del