ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826274941
Gene: KCNH2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
78114
ClinVar RCV:
RCV000057927
RCV000698598
RCV001269138
RCV001664237
RCV002470743
ClinVar Variation:
67218
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001191727.1:p.Arg191Trp
CA004871
NM_001204798.2:c.571C>T