ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830337024
Gene: KCNH2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1982556
ClinVar RCV Id:
RCV002766804
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_742053.1:p.Pro157Leu
CA369863590
NM_172056.2:c.470C>T