ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826275024
Gene: KCNH2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
67243
ClinVar RCV Id:
RCV000057954
RCV000689953
ClinVar Variation Id:
67244
ClinVar RCV Id:
RCV000057955
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001191727.1:p.Trp228Cys
CA005198
NM_001204798.2:c.684G>C
CA005206
NM_001204798.2:c.684G>T