Canonical Allele Identifier: PA2828710530
Gene: KCNJ11 HGNC NCBI
ClinVar RCV:
RCV002694044
ClinVar Variation:
2390252
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001364225.1:p.Arg238Cys
CA5902209
NM_001377296.1:c.712C>T