ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580512002
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_742053.1:p.Pro690Leu
CA369857532
NM_172056.2:c.2069C>T