ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA304486
Gene: KCNH2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
200254
ClinVar RCV Id:
RCV001842813
RCV001852289
RCV002319451
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000229.1:p.Leu1027Ile
CA007884
NM_000238.4:c.3079C>A