ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA254521
Gene: KCNJ11
HGNC
NCBI
Linked Data
ClinVar Variation Id:
8675
ClinVar RCV Id:
RCV000009210
RCV002226640
RCV002512937
RCV003466840
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000516.3:p.Pro254Leu
CA254520
NM_000525.4:c.761C>T