ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA305418
Gene: KCNH2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
67295
ClinVar RCV Id:
RCV000058013
RCV000157265
RCV000182032
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_742053.1:p.Tyr616Cys
CA005674
NM_172056.2:c.1847A>G