ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825099165
Gene: KCNH2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV003648296
ClinVar Variation:
2825728
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000229.1:p.Ser783Tyr
CA369856065
NM_000238.4:c.2348C>A