ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA304944
Gene: KCNH2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
197220
ClinVar RCV:
RCV000181849
RCV000694640
ClinVar Variation:
200428
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_742053.1:p.Ile787Asn
CA006494
NM_172056.2:c.2360T>A