ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645377749
Gene: KCNJ11
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000415398
ClinVar Variation:
373928
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000516.3:p.Thr62Arg
CA16043457
NM_000525.4:c.185C>G