ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139745974
Gene: KCNH2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
979129
ClinVar RCV Id:
RCV001258196
RCV001879987
RCV002418862
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_742053.1:p.Arg685His
CA030505
NM_172056.2:c.2054G>A