ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645443849
Gene: KCNH2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000413790
RCV000473168
RCV003322603
ClinVar Variation:
372377
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_742053.1:p.Gly800Val
CA16042692
NM_172056.2:c.2399G>T