ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA3078067017
Gene: KCNJ11
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000516.3:p.Cys344Phe
CA5902199
NM_000525.4:c.1031G>T