ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA305375
Gene: KCNH2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000057936
RCV001703966
RCV001854196
ClinVar Variation:
67226
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000229.1:p.Ala558Glu
CA004976
NM_000238.4:c.1673C>A