ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA305190
Gene: KCNH2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
67182
ClinVar RCV Id:
RCV000057889
RCV000181926
RCV000823889
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000229.1:p.Tyr43Cys
CA004427
NM_000238.4:c.128A>G