ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA328579
Gene: KCNH2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
67206
ClinVar RCV Id:
RCV000057915
RCV000412722
RCV001207034
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000229.1:p.Tyr493Cys
CA004695
NM_000238.4:c.1478A>G