ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA304793
Gene: KCNH2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000057995
RCV000208241
RCV000233419
RCV000619597
ClinVar Variation:
67279
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_742054.1:p.Gly261Ser
CA005525
NM_172057.3:c.781G>A