ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830337767
Gene: KCNH2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
924916
ClinVar RCV Id:
RCV001843296
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_742053.1:p.Ile414Val
CA369860142
NM_172056.2:c.1240A>G