Canonical Allele Identifier: PA2830345753
Gene: KCNQ2 HGNC NCBI

Linked Data

ClinVar Variation Id: 872260
ClinVar RCV Id: RCV001092634 RCV001389467
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_742105.1:p.Val250Leu
CA409653918
NM_172107.3:c.748G>T
CA409653920
NM_172107.3:c.748G>C