ClinGen Allele Registry
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Canonical Allele Identifier:
PA328627
Gene: KCNH2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000057927
RCV000698598
RCV001269138
RCV001664237
RCV002470743
ClinVar Variation:
67218
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_742053.1:p.Arg531Trp
CA004871
NM_172056.2:c.1591C>T