ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA104758
Gene: KCNH1
HGNC
NCBI
Linked Data
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Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_758872.1:p.Lys217Asn
NM_172362.3:c.651G>C
NM_172362.3:c.651G>T