ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA346389
Gene: KCNH2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
180382
ClinVar RCV Id:
RCV000157263
RCV000249792
RCV000729426
RCV001842496
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_742053.1:p.Arg356His
CA004196
NM_172056.2:c.1067G>A