ClinGen Allele Registry
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Canonical Allele Identifier:
PA228966
Gene: KCNH5
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000087147
RCV000701370
RCV003162518
RCV003334350
RCV003448263
ClinVar Variation:
100784
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_647479.2:p.Arg327His
CA228965
NM_139318.5:c.980G>A