ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573307179
Gene: KCNH2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1353392
ClinVar RCV Id:
RCV001885519
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_742053.1:p.Gln725Pro
CA369856668
NM_172056.2:c.2174A>C