ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828710612
Gene: KCNJ11
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3231945
ClinVar RCV Id:
RCV004518660
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001364226.1:p.Ala58Ser
CA379773768
NM_001377297.1:c.172G>T