ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826275323
Gene: KCNH2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2100787
ClinVar RCV Id:
RCV003014580
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001191727.1:p.Pro350Leu
CA369857532
NM_001204798.2:c.1049C>T