ClinGen Allele Registry
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Canonical Allele Identifier:
PA645397220
Gene: KCNH2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
379235
ClinVar RCV Id:
RCV000431050
RCV000763172
RCV001048076
RCV001841309
RCV002446661
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_742054.1:p.Ala8Val
CA16605278
NM_172057.3:c.23C>T