ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830339708
Gene: KCNH2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1363568
ClinVar RCV Id:
RCV001934955
RCV004039849
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_742054.1:p.Leu326Pro
CA369857686
NM_172057.3:c.977T>C