ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA328733
Gene: KCNH2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
67247
ClinVar RCV Id:
RCV000057958
RCV000436135
RCV000556890
RCV004017367
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_742054.1:p.Ile231Val
CA005235
NM_172057.3:c.691A>G