ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA304974
Gene: KCNH2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
200438
ClinVar RCV Id:
RCV001361466
RCV003165386
ClinVar Variation Id:
940061
ClinVar RCV Id:
RCV001209572
RCV002497719
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_742053.1:p.Val796Leu
CA006553
NM_172056.2:c.2386G>C
CA031879
NM_172056.2:c.2386G>T
