ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826275278
Gene: KCNH2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000490005
ClinVar Variation:
427076
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001191727.1:p.Gly317Val
CA369857738
NM_001204798.2:c.950G>T