ClinGen Allele Registry
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Canonical Allele Identifier:
PA305104
Gene: KCNH2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000181895
RCV000540197
RCV001160950
RCV001842833
RCV002433795
RCV002492806
ClinVar Variation:
200501
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_742054.1:p.Trp587Leu
CA007429
NM_172057.3:c.1760G>T