ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA305150
Gene: KCNH2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
200526
ClinVar RCV Id:
RCV000181912
RCV002515311
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000229.1:p.Ser1040Asn
CA008007
NM_000238.4:c.3119G>A