Allele Registry

Canonical Allele Identifier: PA2580127258

Gene: KCNJ11 HGNC NCBI

ClinVar RCV:

RCV003062335

RCV003459722

ClinVar Variation:

2137002

HGVS (amino-acid)	Matching Registered Transcripts
NP_000516.3:p.Phe55Leu	CA379776136 NM_000525.4:c.165C>G CA379776138 NM_000525.4:c.165C>A CA379776178 NM_000525.4:c.163T>C