ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA305364
Gene: KCNH2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
200728
ClinVar RCV Id:
RCV000182023
RCV000473348
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_742053.1:p.Arg534Ser
CA004896
NM_172056.2:c.1600C>A