ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830337077
Gene: KCNJ1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2137281
ClinVar RCV Id:
RCV003062473
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_722449.3:p.Pro183Ser
CA6357511
NM_153765.3:c.547C>T