ClinGen Allele Registry
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Canonical Allele Identifier:
PA120153
Gene: KCNJ1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_722451.1:p.Ser200Arg
NM_153767.4:c.598A>C
NM_153767.4:c.600C>A
NM_153767.4:c.600C>G