ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830337728
Gene: KCNH2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
933401
ClinVar RCV Id:
RCV001201606
RCV002497688
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_742053.1:p.Pro393Leu
CA027297
NM_172056.2:c.1178C>T