ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA353959
Gene: KCNH2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
222669
ClinVar RCV Id:
RCV000208259
RCV000781487
RCV002408905
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_742053.1:p.Val630Ile
CA029665
NM_172056.2:c.1888G>A