ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA328735
Gene: KCNH2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000057958
RCV000436135
RCV000556890
RCV004017367
ClinVar Variation:
67247
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_742053.1:p.Ile571Val
CA005235
NM_172056.2:c.1711A>G