ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139670004
Gene: KCNJ11
HGNC
NCBI
Linked Data
ClinVar Variation Id:
992023
ClinVar RCV Id:
RCV001280332
RCV001431428
RCV002226769
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000516.3:p.Val373Met
CA5902175
NM_000525.4:c.1117G>A