ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825099067
Gene: KCNH2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
448974
ClinVar RCV Id:
RCV000519050
RCV000631573
RCV001811024
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000229.1:p.Arg685Cys
CA030488
NM_000238.4:c.2053C>T