ClinGen Allele Registry
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Canonical Allele Identifier:
PA215103
Gene: KCNH1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_002229.1:p.Gly348Arg
NM_002238.4:c.1042G>A
NM_002238.4:c.1042G>C