ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645443823
Gene: KCNH2
HGNC
NCBI
Linked Data
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Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_742053.1:p.Phe781Leu
NM_172056.2:c.2341T>C
NM_172056.2:c.2343C>A
NM_172056.2:c.2343C>G