ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA172343
Gene: KCNJ11
HGNC
NCBI
Linked Data
ClinVar Variation Id:
158683
ClinVar RCV Id:
RCV000146117
RCV002226687
RCV003338421
RCV003556188
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000516.3:p.Glu229Lys
CA172342
NM_000525.4:c.685G>A