ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829369799
Gene: KCNH1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2043738
ClinVar RCV Id:
RCV002913214
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_002229.1:p.Thr219Met
CA1379978
NM_002238.4:c.656C>T