ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA304794
Gene: KCNH2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
67279
ClinVar RCV Id:
RCV000057995
RCV000208241
RCV000233419
RCV000619597
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_742053.1:p.Gly601Ser
CA005525
NM_172056.2:c.1801G>A