ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915989830
Gene: KCNJ11
HGNC
NCBI
Linked Data
ClinVar Variation Id:
558072
ClinVar RCV Id:
RCV000674292
RCV002227205
RCV002532161
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001159762.1:p.Arg49His
CA379773972
NM_001166290.2:c.146G>A