ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830340237
Gene: KCNH2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV001841906
ClinVar Variation:
628973
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_742054.1:p.Arg547Leu
CA369853704
NM_172057.3:c.1640G>T