Canonical Allele Identifier: PA2828710543
Gene: KCNJ11 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001364225.1:p.Val250Ile
CA172316
NM_001377296.1:c.748G>A
CA2573146242
NM_001377296.1:c.747_748delinsAA