ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA328448
Gene: KCNH2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
67178
ClinVar RCV Id:
RCV000057885
RCV000246613
RCV001854188
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_742053.1:p.Tyr427Ser
CA004385
NM_172056.2:c.1280A>C