ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA211469
Gene: KCNH2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
67422
ClinVar RCV Id:
RCV000058147
RCV000148524
RCV000780364
RCV001841713
RCV002453373
RCV003884345
RCV002477188
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_742054.1:p.Arg545Cys
CA007076
NM_172057.3:c.1633C>T