ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573074471
Gene: KCNJ11
HGNC
NCBI
Linked Data
ClinVar Variation Id:
804976
ClinVar RCV Id:
RCV000992252
RCV002227237
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001364226.1:p.Arg49Ser
CA379773977
NM_001377297.1:c.145C>A