ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580127371
Gene: KCNJ11
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1998703
ClinVar RCV Id:
RCV002814846
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000516.3:p.Ser385Phe
CA5902170
NM_000525.4:c.1154C>T