ClinGen Allele Registry
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Canonical Allele Identifier:
PA305428
Gene: KCNH2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_742053.1:p.Phe627Leu
CA005780
NM_172056.2:c.1879T>C
CA005788
NM_172056.2:c.1881C>A
CA005797
NM_172056.2:c.1881C>G